Canonical Allele Identifier: CA373997625
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 1305988
ClinVar RCV Id: RCV001766941
dbSNP Id: rs2118442648
gnomAD v4: 9-77794462-C-A
MyVariant Identifiers: chr9:g.80409378C>A (hg19) chr9:g.77794462C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794462C>A , CM000671.2:g.77794462C>A GRCh38
NC_000009.11:g.80409378C>A , CM000671.1:g.80409378C>A GRCh37
NC_000009.10:g.79599198C>A NCBI36
NG_027904.2:g.241842G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+1G>T MANE Select ENSP00000286548.4:n.735+1G>T
ENST00000286548.8:c.735+1G>T ENSP00000286548.4:n.735+1G>T
NM_002072.4:c.735+1G>T NP_002063.2:n.735+1G>T
XM_017014628.2:c.561+1G>T XP_016870117.1:n.561+1G>T
NM_002072.5:c.735+1G>T MANE Select NP_002063.2:n.735+1G>T
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