Sequence Variant Nomenclature

Please support our efforts: NEW: bi-monthly online HGVS nomenclature sessions. The Q&A of Tuesday November 9 is now available through the Socrative classroom: HGVSonline3. Next live session: Tuesday Jan.11 (3pm GMT). Interested to join?: please register.

This site covers HGVS-nomenclature, the recommendations for the description of sequence variants. It is used to report and exchange information of variants found in DNA, RNA and protein sequences and serves as an international standard. When using the recommendations please cite: Den Dunnen et al. 2016, Hum.Mutat. 37:564-569. HGVS-nomenclature is authorised by the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the Human Genome Organization (HUGO).

Recent Additions

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.

Contact Us

Discussions regarding HGVS nomenclature are necessary in order to further improve them. What is listed on these pages represents the current consensus of the recommendations. We invite everybody to send us question, comments or examples of cases that are not yet covered, with a suggestion of how to describe these ( E-mail: VarNomen @ HGVS.org). For specific questions, do not forget to mention the reference sequence used!