Canonical Allele Identifier: CA6417420

Gene: GNB3

Linked Data

• ClinVar Variation Id: 1367277
• ClinVar RCV Id: RCV001932444
• dbSNP Id: rs782154852
• ExAC: 12:6952162 G / A
• gnomAD v2: 12-6952162-G-A
• gnomAD v3: 12-6842998-G-A
• gnomAD v4: 12-6842998-G-A
• COSMIC: COSM1512952
• MyVariant Identifiers: chr12:g.6952162G>A (hg19) ; chr12:g.6842998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6842998G>A , CM000674.2:g.6842998G>A	GRCh38
NC_000012.11:g.6952162G>A , CM000674.1:g.6952162G>A	GRCh37
NC_000012.10:g.6822423G>A	NCBI36
NG_009100.1:g.7788G>A
NG_009100.2:g.7788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.125G>A MANE Select	ENSP00000229264.3:p.Arg42Gln
ENST00000229264.7:c.125G>A	ENSP00000229264.3:p.Arg42Gln
ENST00000435982.6:c.125G>A	ENSP00000414734.2:p.Arg42Gln
ENST00000537035.1:c.125G>A	ENSP00000445967.1:p.Arg42Gln
ENST00000539127.5:c.*145G>A	ENSP00000444325.1:n.*145G>A
ENST00000540458.5:n.1476G>A
ENST00000541257.5:c.125G>A	ENSP00000442002.1:p.Arg42Gln
ENST00000541978.5:c.125G>A	ENSP00000439753.2:p.Arg42Gln
ENST00000542868.1:n.613G>A
NM_001297571.1:c.125G>A	NP_001284500.1:p.Arg42Gln
NM_002075.3:c.125G>A	NP_002066.1:p.Arg42Gln
XM_011520953.1:c.125G>A	XP_011519255.1:p.Arg42Gln
XM_011520954.1:c.125G>A	XP_011519256.1:p.Arg42Gln
XM_011520953.3:c.125G>A	XP_011519255.1:p.Arg42Gln
NM_001297571.2:c.125G>A	NP_001284500.1:p.Arg42Gln
NM_002075.4:c.125G>A MANE Select	NP_002066.1:p.Arg42Gln