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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.

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

Contact Us#

Users of HGVS Nomenclature are invited to contact us to ask questions or get involved with its development.

  • Join the HGVS Nomenclature group and mailing list. This is the preferred forum for discussing questions and issues regarding the HGVS Nomenclature, and for receiving announcements about new releases.
    • Messages sent to hgvs-nomenclature@googlegroups.com will be distributed to members by email.
    • You do not need to be a member to send a message to the group. However, you will not see a reply unless you join the group or manually check the HGVS Nomenclature conversation archive.
  • See Community Consultation for proposals, including how to submit a proposal for future versions of the HGVS Nomenclature.

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

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 the specification "HGVS Nomenclature".

Availability#

The code repository from which the HGVS Nomenclature is rendered contains both written text recommendations and associated code. The licensing for each is as follows: