Canonical Allele Identifier: CA16602436

Gene: GNAQ

Linked Data

• ClinVar Variation Id: 375957
• ClinVar RCV Id: RCV000425312 ; RCV000436033
• dbSNP Id: rs121913492
• COSMIC: COSM28758
• MyVariant Identifiers: chr9:g.80409488T>G (hg19) ; chr9:g.77794572T>G (hg38)
• PubMed: PMID:1328859 ; PMID:2549426 ; PMID:18719078 ; PMID:19078957 ; PMID:21083380 ; PMID:22253748 ; PMID:22653968 ; PMID:22733540 ; PMID:22808163 ; PMID:25157968
• CIViC: CA16602436

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.626A>C MANE Select	ENSP00000286548.4:p.Gln209Pro
ENST00000286548.8:c.626A>C	ENSP00000286548.4:p.Gln209Pro
NM_002072.4:c.626A>C	NP_002063.2:p.Gln209Pro
XM_017014628.2:c.452A>C	XP_016870117.1:p.Gln151Pro
NM_002072.5:c.626A>C MANE Select	NP_002063.2:p.Gln209Pro