Canonical Allele Identifier: CA16602435
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 375956
dbSNP Id: rs121913492
COSMIC: COSM28760

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