Canonical Allele Identifier: CA383675154

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845713-T-A
• MyVariant Identifiers: chr12:g.6954877T>A (hg19) ; chr12:g.6845713T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845713T>A , CM000674.2:g.6845713T>A	GRCh38
NC_000012.11:g.6954877T>A , CM000674.1:g.6954877T>A	GRCh37
NC_000012.10:g.6825138T>A	NCBI36
NG_009100.1:g.10503T>A
NG_009100.2:g.10503T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.827T>A (GNB3) MANE Select	ENSP00000229264.3:p.Val276Glu
ENST00000229264.7:c.827T>A (GNB3)	ENSP00000229264.3:p.Val276Glu
ENST00000422785.7:c.*1075A>T (CDCA3)	ENSP00000415142.2:n.*1075A>T
ENST00000435982.6:c.824T>A (GNB3)	ENSP00000414734.2:p.Val275Glu
ENST00000537035.1:c.704T>A (GNB3)	ENSP00000445967.1:p.Val235Glu
ENST00000540458.5:n.2178T>A (GNB3)
ENST00000542751.1:n.347T>A (GNB3)
ENST00000603043.1:n.1141A>T (CDCA3)
ENST00000604599.1:n.2003A>T (CDCA3)
NM_001297571.1:c.824T>A (GNB3)	NP_001284500.1:p.Val275Glu
NM_002075.3:c.827T>A (GNB3)	NP_002066.1:p.Val276Glu
XM_011520953.1:c.827T>A (GNB3)	XP_011519255.1:p.Val276Glu
XM_011520954.1:c.824T>A (GNB3)	XP_011519256.1:p.Val275Glu
XM_011521027.1:c.*1816A>T (CDCA3)	XP_011519329.1:n.*1816A>T
XM_011521028.1:c.*1816A>T (CDCA3)	XP_011519330.1:n.*1816A>T
XM_011521029.1:c.*2034A>T (CDCA3)	XP_011519331.1:n.*2034A>T
XM_011521030.1:c.*1967A>T (CDCA3)	XP_011519332.1:n.*1967A>T
XM_011520953.3:c.827T>A (GNB3)	XP_011519255.1:p.Val276Glu
XR_001748879.2:n.3361A>T (CDCA3)
XR_001748880.2:n.2712A>T (CDCA3)
XR_001748881.2:n.2621A>T (CDCA3)
XR_002957383.1:n.2863A>T (CDCA3)
XR_002957384.1:n.3774A>T (CDCA3)
XR_002957385.1:n.3254A>T (CDCA3)
NM_001297571.2:c.824T>A (GNB3)	NP_001284500.1:p.Val275Glu
NM_002075.4:c.827T>A (GNB3) MANE Select	NP_002066.1:p.Val276Glu
NM_001297603.3:c.*1075A>T (CDCA3)	NP_001284532.1:n.*1075A>T