Canonical Allele Identifier: CA588764535

Gene: GNAQ

Linked Data

• dbSNP Id: rs1306080267
• gnomAD v2: 9-80409589-C-G
• gnomAD v3: 9-77794673-C-G
• gnomAD v4: 9-77794673-C-G
• MyVariant Identifiers: chr9:g.80409589C>G (hg19) ; chr9:g.77794673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794673C>G , CM000671.2:g.77794673C>G	GRCh38
NC_000009.11:g.80409589C>G , CM000671.1:g.80409589C>G	GRCh37
NC_000009.10:g.79599409C>G	NCBI36
NG_027904.2:g.241631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-81G>C MANE Select	ENSP00000286548.4:n.606-81G>C
ENST00000286548.8:c.606-81G>C	ENSP00000286548.4:n.606-81G>C
NM_002072.4:c.606-81G>C	NP_002063.2:n.606-81G>C
XM_017014628.2:c.432-81G>C	XP_016870117.1:n.432-81G>C
NM_002072.5:c.606-81G>C MANE Select	NP_002063.2:n.606-81G>C