Canonical Allele Identifier: CA143805
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 50853
ClinVar RCV Id: RCV000043593 RCV000043592 RCV000533476 RCV001526543 RCV001526638 RCV001705695 RCV002254275 RCV002294003 RCV003221795
dbSNP Id: rs397514698
COSMIC: COSM52975 COSM4785077
MyVariant Identifiers: chr9:g.80412493C>T (hg19) chr9:g.77797577C>T (hg38)
PubMed: PMID:23656586 PMID:25188413
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77797577C>T , CM000671.2:g.77797577C>T GRCh38
NC_000009.11:g.80412493C>T , CM000671.1:g.80412493C>T GRCh37
NC_000009.10:g.79602313C>T NCBI36
NG_027904.2:g.238727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.548G>A MANE Select ENSP00000286548.4:p.Arg183Gln
ENST00000286548.8:c.548G>A ENSP00000286548.4:p.Arg183Gln
ENST00000411677.1:c.461G>A ENSP00000391501.1:p.Arg154Gln
NM_002072.4:c.548G>A NP_002063.2:p.Arg183Gln
XM_017014628.2:c.374G>A XP_016870117.1:p.Arg125Gln
NM_002072.5:c.548G>A MANE Select NP_002063.2:p.Arg183Gln
Search 100 bp 5'
Search 100 bp 3'