Canonical Allele Identifier: CA6417430

Gene: GNB3

Linked Data

• dbSNP Id: rs782711283
• ExAC: 12:6952191 AG / A
• gnomAD v2: 12-6952191-AG-A
• gnomAD v3: 12-6843027-AG-A
• gnomAD v4: 12-6843027-AG-A
• MyVariant Identifiers: chr12:g.6952192del (hg19) ; chr12:g.6843028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843031del , CM000674.2:g.6843031del	GRCh38
NC_000012.11:g.6952195del , CM000674.1:g.6952195del	GRCh37
NC_000012.10:g.6822456del	NCBI36
NG_009100.1:g.7821del
NG_009100.2:g.7821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.158del MANE Select	ENSP00000229264.3:p.Gly53AspfsTer19
ENST00000229264.7:c.158del	ENSP00000229264.3:p.Gly53AspfsTer19
ENST00000435982.6:c.158del	ENSP00000414734.2:p.Gly53AspfsTer19
ENST00000537035.1:c.158del	ENSP00000445967.1:p.Gly53AspfsTer19
ENST00000539127.5:c.*178del	ENSP00000444325.1:n.*178del
ENST00000540458.5:n.1509del
ENST00000541257.5:c.158del	ENSP00000442002.1:p.Gly53AspfsTer19
ENST00000541978.5:c.158del	ENSP00000439753.2:p.Gly53AspfsTer19
NM_001297571.1:c.158del	NP_001284500.1:p.Gly53AspfsTer19
NM_002075.3:c.158del	NP_002066.1:p.Gly53AspfsTer19
XM_011520953.1:c.158del	XP_011519255.1:p.Gly53AspfsTer19
XM_011520954.1:c.158del	XP_011519256.1:p.Gly53AspfsTer19
XM_011520953.3:c.158del	XP_011519255.1:p.Gly53AspfsTer19
NM_001297571.2:c.158del	NP_001284500.1:p.Gly53AspfsTer19
NM_002075.4:c.158del MANE Select	NP_002066.1:p.Gly53AspfsTer19