Canonical Allele Identifier: CA6417425

Gene: GNB3

Linked Data

• ClinVar Variation Id: 1006652
• ClinVar RCV Id: RCV001303729
• dbSNP Id: rs781805018
• ExAC: 12:6952179 C / T
• gnomAD v2: 12-6952179-C-T
• gnomAD v3: 12-6843015-C-T
• gnomAD v4: 12-6843015-C-T
• MyVariant Identifiers: chr12:g.6952179C>T (hg19) ; chr12:g.6843015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843015C>T , CM000674.2:g.6843015C>T	GRCh38
NC_000012.11:g.6952179C>T , CM000674.1:g.6952179C>T	GRCh37
NC_000012.10:g.6822440C>T	NCBI36
NG_009100.1:g.7805C>T
NG_009100.2:g.7805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.142C>T MANE Select	ENSP00000229264.3:p.Arg48Trp
ENST00000229264.7:c.142C>T	ENSP00000229264.3:p.Arg48Trp
ENST00000435982.6:c.142C>T	ENSP00000414734.2:p.Arg48Trp
ENST00000537035.1:c.142C>T	ENSP00000445967.1:p.Arg48Trp
ENST00000539127.5:c.*162C>T	ENSP00000444325.1:n.*162C>T
ENST00000540458.5:n.1493C>T
ENST00000541257.5:c.142C>T	ENSP00000442002.1:p.Arg48Trp
ENST00000541978.5:c.142C>T	ENSP00000439753.2:p.Arg48Trp
NM_001297571.1:c.142C>T	NP_001284500.1:p.Arg48Trp
NM_002075.3:c.142C>T	NP_002066.1:p.Arg48Trp
XM_011520953.1:c.142C>T	XP_011519255.1:p.Arg48Trp
XM_011520954.1:c.142C>T	XP_011519256.1:p.Arg48Trp
XM_011520953.3:c.142C>T	XP_011519255.1:p.Arg48Trp
NM_001297571.2:c.142C>T	NP_001284500.1:p.Arg48Trp
NM_002075.4:c.142C>T MANE Select	NP_002066.1:p.Arg48Trp