Canonical Allele Identifier: CA1139662494

Gene: GNB3

Linked Data

• ClinVar Variation Id: 959220
• ClinVar RCV Id: RCV001232523
• dbSNP Id: rs782583806

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6841629G>T , CM000674.2:g.6841629G>T	GRCh38
NC_000012.11:g.6950793G>T , CM000674.1:g.6950793G>T	GRCh37
NC_000012.10:g.6821054G>T	NCBI36
NG_009100.1:g.6419G>T
NG_033740.1:g.18257G>T
NG_009100.2:g.6419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.96+5G>T MANE Select	ENSP00000229264.3:n.96+5G>T
ENST00000675241.1:c.96+5G>T	ENSP00000501677.1:n.96+5G>T
ENST00000229264.7:c.96+5G>T	ENSP00000229264.3:n.96+5G>T
ENST00000435982.6:c.96+5G>T	ENSP00000414734.2:n.96+5G>T
ENST00000537035.1:c.96+5G>T	ENSP00000445967.1:n.96+5G>T
ENST00000539127.5:c.96+5G>T	ENSP00000444325.1:n.96+5G>T
ENST00000540458.5:n.1447+5G>T
ENST00000541257.5:c.96+5G>T	ENSP00000442002.1:n.96+5G>T
ENST00000541978.5:c.96+5G>T	ENSP00000439753.2:n.96+5G>T
ENST00000542868.1:n.584+5G>T
NM_001297571.1:c.96+5G>T	NP_001284500.1:n.96+5G>T
NM_002075.3:c.96+5G>T	NP_002066.1:n.96+5G>T
XM_011520953.1:c.96+5G>T	XP_011519255.1:n.96+5G>T
XM_011520954.1:c.96+5G>T	XP_011519256.1:n.96+5G>T
XM_011520953.3:c.96+5G>T	XP_011519255.1:n.96+5G>T
NM_001297571.2:c.96+5G>T	NP_001284500.1:n.96+5G>T
NM_002075.4:c.96+5G>T MANE Select	NP_002066.1:n.96+5G>T