Canonical Allele Identifier: CA16602434
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 375955
dbSNP Id: rs121913492
COSMIC: COSM28757

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.626A>T MANE Select ENSP00000286548.4:p.Gln209Leu
ENST00000286548.8:c.626A>T ENSP00000286548.4:p.Gln209Leu
NM_002072.4:c.626A>T NP_002063.2:p.Gln209Leu
XM_017014628.2:c.452A>T XP_016870117.1:p.Gln151Leu
NM_002072.5:c.626A>T MANE Select NP_002063.2:p.Gln209Leu