Multiple valid HGVS strings following HGVS nomenclature (see HGVS guidelines) can be entered here to represent a variant at different levels (DNA/RNA/protein).
Understanding HGVS Expressions¶
The CIViC Variant knowledge model supports The Human Genome Variation Society (HGVS) Expression to describe sequence variation in genomic, RNA, coding DNA, and protein coordinates. HGVS expressions must be entered individually in the Variant editing interface and may capture HGVS entries not described by the representative coordinates. Manual entry is required (e.g., not automatically linked based on representative coordinates) to permit entries for complex or categorical variants and to support alternate transcripts and reference build versions.
Curating HGVS Expressions¶
HGVS expressions should follow the published HGVS guidelines
HGVS expressions should utilize NCBI and Ensembl transcripts separated by a colon, and followed by the c-dot, p-dot, or g-dot notation style (e.g. ENST00000275493.2:c.2369C>T, NM_005228.4:c.2369C>T, NP_005219.2:p.Thr790Met)
Once variant coordinates have been entered and approved and a variant is linked to the ClinGen Allele Registry, that resource can be a convenient source of useful HGVS expressions to add to the Variant.