HGVS Nomenclature

Important

This is a development and preview site for updates to the HGVS Recommendations. Please see the website migration discussion for a description of the proposed changes and current progress.

The HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA and protein sequence variants. It is used to share information about variants and for clinical reporting.

The HGVS Nomenclature is administered by the HGVS Variant Nomenclature Committee (HVNC) under the auspices of the Human Genome Organization (HUGO).

News

Proposal SVD-WG010 (var distance) is now closed, SVD-WG decision pending. An overview of recent additions, especially those that led to a change of the HGVS version number, can be found on the Versioning page. The HGVS nomenclature facebook page regularly posts topics of interest, including Q&A's and a nomenclature agenda.

Current Citation

HGVS Recommendations for the Description of Sequence Variants: 2016 Update. den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. Hum Mutat. 2016. doi:10.1002/humu.22981 | PubMed:26931183 | PDF