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).

Prefix

hgvs

Links

Homepage Repository Request Discussion

Contact

Reece Hart   0000-0003-3463-0775   reece

Pattern for Local Unique Identifiers

Missing LUI pattern

Example Local Unique Identifiers

NP_003997.1:p.Trp24Cys   Resolve
NG_012337.3(NM_003002.4):c.274G>T   Resolve
NG_012337.3(NM_003002.4):r.(274g>u)   Resolve
NC_000011.10:g.112088970del   Resolve
NC_000011.10(NM_001276503.2):c.169+998del   Resolve
GRCh38(chr11):g.112088970del   Resolve

Example CURIEs

hgvs:NP_003997.1:p.Trp24Cys
hgvs:NG_012337.3(NM_003002.4):c.274G>T
hgvs:NG_012337.3(NM_003002.4):r.(274g>u)
hgvs:NC_000011.10:g.112088970del
hgvs:NC_000011.10(NM_001276503.2):c.169+998del
hgvs:GRCh38(chr11):g.112088970del

Publications

• 2016 HGVS Recommendations for the Description of Sequence Variants: 2016 Update
• 2014 A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

References

GitHub Issue https://github.com/biopragmatics/bioregistry/issues/460

Contributors

• submitter Madeline Iseminger   0000-0002-0548-891X   miseminger

Reviewer

Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt

The metaregistry provides mappings between the Bioregistry and other registries. There are 2 mappings to external registries for this resource with 2 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier NP_003997.1:p.Trp24Cys is used to demonstrate the providers available for Human Genome Variation Society Nomenclature. A guide for curating additional providers can be found here.

Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.