Canonical Allele Identifier: CA383674660

Gene: GNB3 CDCA3

Linked Data

• ClinVar Variation Id: 1466514
• ClinVar RCV Id: RCV001990554
• dbSNP Id: rs2137991224
• gnomAD v4: 12-6845634-T-G
• MyVariant Identifiers: chr12:g.6954798T>G (hg19) ; chr12:g.6845634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845634T>G , CM000674.2:g.6845634T>G	GRCh38
NC_000012.11:g.6954798T>G , CM000674.1:g.6954798T>G	GRCh37
NC_000012.10:g.6825059T>G	NCBI36
NG_009100.1:g.10424T>G
NG_009100.2:g.10424T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.748T>G (GNB3) MANE Select	ENSP00000229264.3:p.Cys250Gly
ENST00000229264.7:c.748T>G (GNB3)	ENSP00000229264.3:p.Cys250Gly
ENST00000422785.7:c.*1154A>C (CDCA3)	ENSP00000415142.2:n.*1154A>C
ENST00000435982.6:c.745T>G (GNB3)	ENSP00000414734.2:p.Cys249Gly
ENST00000537035.1:c.625T>G (GNB3)	ENSP00000445967.1:p.Cys209Gly
ENST00000540458.5:n.2099T>G (GNB3)
ENST00000542751.1:n.268T>G (GNB3)
ENST00000603043.1:n.1220A>C (CDCA3)
ENST00000604599.1:n.2082A>C (CDCA3)
NM_001297571.1:c.745T>G (GNB3)	NP_001284500.1:p.Cys249Gly
NM_002075.3:c.748T>G (GNB3)	NP_002066.1:p.Cys250Gly
XM_011520953.1:c.748T>G (GNB3)	XP_011519255.1:p.Cys250Gly
XM_011520954.1:c.745T>G (GNB3)	XP_011519256.1:p.Cys249Gly
XM_011521027.1:c.*1895A>C (CDCA3)	XP_011519329.1:n.*1895A>C
XM_011521028.1:c.*1895A>C (CDCA3)	XP_011519330.1:n.*1895A>C
XM_011521029.1:c.*2113A>C (CDCA3)	XP_011519331.1:n.*2113A>C
XM_011521030.1:c.*2046A>C (CDCA3)	XP_011519332.1:n.*2046A>C
XM_011520953.3:c.748T>G (GNB3)	XP_011519255.1:p.Cys250Gly
XR_001748879.2:n.3440A>C (CDCA3)
XR_001748880.2:n.2791A>C (CDCA3)
XR_001748881.2:n.2700A>C (CDCA3)
XR_002957383.1:n.2942A>C (CDCA3)
XR_002957384.1:n.3853A>C (CDCA3)
XR_002957385.1:n.3333A>C (CDCA3)
NM_001297571.2:c.745T>G (GNB3)	NP_001284500.1:p.Cys249Gly
NM_002075.4:c.748T>G (GNB3) MANE Select	NP_002066.1:p.Cys250Gly
NM_001297603.3:c.*1154A>C (CDCA3)	NP_001284532.1:n.*1154A>C