Canonical Allele Identifier: CA2690385155

Gene: GNAQ

Linked Data

• dbSNP Id: rs2118442635
• gnomAD v4: 9-77794458-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794460del , CM000671.2:g.77794460del	GRCh38
NC_000009.11:g.80409376del , CM000671.1:g.80409376del	GRCh37
NC_000009.10:g.79599196del	NCBI36
NG_027904.2:g.241845del

Transcript Alleles

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