Canonical Allele Identifier: CA373997884
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 1172601
ClinVar RCV Id: RCV001526532 RCV002254352
dbSNP Id: rs2118444312
COSMIC: COSM1666995
MyVariant Identifiers: chr9:g.80409487T>G (hg19) chr9:g.77794571T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794571T>G , CM000671.2:g.77794571T>G GRCh38
NC_000009.11:g.80409487T>G , CM000671.1:g.80409487T>G GRCh37
NC_000009.10:g.79599307T>G NCBI36
NG_027904.2:g.241733A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.627A>C MANE Select ENSP00000286548.4:p.Gln209His
ENST00000286548.8:c.627A>C ENSP00000286548.4:p.Gln209His
NM_002072.4:c.627A>C NP_002063.2:p.Gln209His
XM_017014628.2:c.453A>C XP_016870117.1:p.Gln151His
NM_002072.5:c.627A>C MANE Select NP_002063.2:p.Gln209His
Search 100 bp 5'
Search 100 bp 3'