Canonical Allele Identifier: CA867169474
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1312093207
gnomAD v3: 9-77794628-A-C
gnomAD v4: 9-77794628-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794628A>C , CM000671.2:g.77794628A>C GRCh38
NC_000009.11:g.80409544A>C , CM000671.1:g.80409544A>C GRCh37
NC_000009.10:g.79599364A>C NCBI36
NG_027904.2:g.241676T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-36T>G MANE Select ENSP00000286548.4:n.606-36T>G
ENST00000286548.8:c.606-36T>G ENSP00000286548.4:n.606-36T>G
NM_002072.4:c.606-36T>G NP_002063.2:n.606-36T>G
XM_017014628.2:c.432-36T>G XP_016870117.1:n.432-36T>G
NM_002072.5:c.606-36T>G MANE Select NP_002063.2:n.606-36T>G