{"entity":{"id":"hgvs","kind":"term","name":"HGVS variant nomenclature","aka":["HGVS","HGVS nomenclature","HGVS notation","c. notation","p. notation","variant nomenclature"],"tldr":"HGVS is the standard way to write a DNA or protein change, such as EGFR c.2573T>G or p.Leu858Arg, so that the same variant is named the same way everywhere.","summary":"The Human Genome Variation Society maintains the recommendations for describing sequence variants (Wikipedia; the current rules are at hgvs-nomenclature.org). A description names the reference sequence and level (g. genomic, c. coding DNA, p. protein) and the change, and a genomic description depends on the genome build. Free-text variant names in papers (L858R, T790M) are shorthand for HGVS protein descriptions; joining them to databases such as ClinVar and CIViC requires the full form.","asOf":"2026-09-24","wikipedia":"https://en.wikipedia.org/wiki/Human_Genome_Variation_Society","links":[{"label":"HGVS nomenclature","url":"https://hgvs-nomenclature.org/stable/"},{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Human_Genome_Variation_Society"}],"tags":["cansim-terms"],"related":["clinvar","civic","cancer-ai-vocabulary"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["genome-builds","variant-effect-prediction","variant-calling"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Listed in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme; CanSim page path /terms/hgvs."],"provenance":{"editedBy":"OnCo CanSim terms wave (Wikipedia summaries, standards and project pages, GDC and FDA pages, Europe PMC)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"category":"Genomics & genetics"},"route":"/terms/hgvs/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"clinvar","kind":"collection","name":"ClinVar","route":"/collections/clinvar/"}],"term":[{"id":"cancer-ai-vocabulary","kind":"term","name":"Cancer AI vocabulary (CanSim terms map)","route":"/terms/cancer-ai-vocabulary/"},{"id":"genome-builds","kind":"term","name":"Genome builds: GRCh38 versus hg19 (GRCh37)","route":"/terms/genome-builds/"},{"id":"variant-calling","kind":"term","name":"Variant calling","route":"/terms/variant-calling/"},{"id":"variant-effect-prediction","kind":"term","name":"Variant effect prediction","route":"/terms/variant-effect-prediction/"}]}}