Canonical Allele Identifier: CA16602435
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 375956
ClinVar RCV Id: RCV000442822 RCV001327979 RCV003458165
dbSNP Id: rs121913492
COSMIC: COSM28760
MyVariant Identifiers: chr9:g.80409488T>C (hg19) chr9:g.77794572T>C (hg38)
PubMed: PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794572T>C , CM000671.2:g.77794572T>C GRCh38
NC_000009.11:g.80409488T>C , CM000671.1:g.80409488T>C GRCh37
NC_000009.10:g.79599308T>C NCBI36
NG_027904.2:g.241732A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286548.9:c.626A>G MANE Select ENSP00000286548.4:p.Gln209Arg
ENST00000286548.8:c.626A>G ENSP00000286548.4:p.Gln209Arg
NM_002072.4:c.626A>G NP_002063.2:p.Gln209Arg
XM_017014628.2:c.452A>G XP_016870117.1:p.Gln151Arg
NM_002072.5:c.626A>G MANE Select NP_002063.2:p.Gln209Arg
Search 100 bp 5'
Search 100 bp 3'