Canonical Allele Identifier: CA383671787

Gene: GNB3

Linked Data

• dbSNP Id: rs146702158
• gnomAD v2: 12-6952214-C-G
• gnomAD v4: 12-6843050-C-G
• MyVariant Identifiers: chr12:g.6952214C>G (hg19) ; chr12:g.6843050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843050C>G , CM000674.2:g.6843050C>G	GRCh38
NC_000012.11:g.6952214C>G , CM000674.1:g.6952214C>G	GRCh37
NC_000012.10:g.6822475C>G	NCBI36
NG_009100.1:g.7840C>G
NG_009100.2:g.7840C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.177C>G MANE Select	ENSP00000229264.3:p.Tyr59Ter
ENST00000229264.7:c.177C>G	ENSP00000229264.3:p.Tyr59Ter
ENST00000435982.6:c.177C>G	ENSP00000414734.2:p.Tyr59Ter
ENST00000537035.1:c.177C>G	ENSP00000445967.1:p.Tyr59Ter
ENST00000539127.5:c.*197C>G	ENSP00000444325.1:n.*197C>G
ENST00000540458.5:n.1528C>G
ENST00000541257.5:c.177C>G	ENSP00000442002.1:p.Tyr59Ter
ENST00000541978.5:c.177C>G	ENSP00000439753.2:p.Tyr59Ter
NM_001297571.1:c.177C>G	NP_001284500.1:p.Tyr59Ter
NM_002075.3:c.177C>G	NP_002066.1:p.Tyr59Ter
XM_011520953.1:c.177C>G	XP_011519255.1:p.Tyr59Ter
XM_011520954.1:c.177C>G	XP_011519256.1:p.Tyr59Ter
XM_011520953.3:c.177C>G	XP_011519255.1:p.Tyr59Ter
NM_001297571.2:c.177C>G	NP_001284500.1:p.Tyr59Ter
NM_002075.4:c.177C>G MANE Select	NP_002066.1:p.Tyr59Ter