The HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases.
Users of HGVS Nomenclature are invited to contact us to ask questions or get involved with its development.
- Join the HGVS Nomenclature group. This is the preferred forum for discussing the use of HGVS Nomenclature.
- See Community Consultation for proposals, including how to submit a proposal.
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
A note about our name#
We've called ourselves by lots of names, including "VarNomen", "MutNomen", "HGVS Recommendations", "HGVS Guidelines", and even just "HGVS" colloquially. We recognize that this has caused confusion in the community. Please call us "HGVS Nomenclature".