Canonical Allele Identifier: CA16602757
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 376311
ClinVar RCV Id: RCV000441114
dbSNP Id: rs1057519853
COSMIC: COSM28759

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794572_77794573delinsAA , CM000671.2:g.77794572_77794573delinsAA GRCh38
NC_000009.11:g.80409488_80409489delinsAA , CM000671.1:g.80409488_80409489delinsAA GRCh37
NC_000009.10:g.79599308_79599309delinsAA NCBI36
NG_027904.2:g.241731_241732delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000286548.9:c.625_626delinsTT MANE Select ENSP00000286548.4:p.Gln209Leu
ENST00000286548.8:c.625_626delinsTT ENSP00000286548.4:p.Gln209Leu
NM_002072.4:c.625_626delinsTT NP_002063.2:p.Gln209Leu
XM_017014628.2:c.451_452delinsTT XP_016870117.1:p.Gln151Leu
NM_002072.5:c.625_626delinsTT MANE Select NP_002063.2:p.Gln209Leu