Canonical Allele Identifier: CA383675157

Gene: GNB3 CDCA3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.827T>C (GNB3) MANE Select	ENSP00000229264.3:p.Val276Ala
ENST00000229264.7:c.827T>C (GNB3)	ENSP00000229264.3:p.Val276Ala
ENST00000422785.7:c.*1075A>G (CDCA3)	ENSP00000415142.2:n.*1075A>G
ENST00000435982.6:c.824T>C (GNB3)	ENSP00000414734.2:p.Val275Ala
ENST00000537035.1:c.704T>C (GNB3)	ENSP00000445967.1:p.Val235Ala
ENST00000540458.5:n.2178T>C (GNB3)
ENST00000542751.1:n.347T>C (GNB3)
ENST00000603043.1:n.1141A>G (CDCA3)
ENST00000604599.1:n.2003A>G (CDCA3)
NM_001297571.1:c.824T>C (GNB3)	NP_001284500.1:p.Val275Ala
NM_002075.3:c.827T>C (GNB3)	NP_002066.1:p.Val276Ala
XM_011520953.1:c.827T>C (GNB3)	XP_011519255.1:p.Val276Ala
XM_011520954.1:c.824T>C (GNB3)	XP_011519256.1:p.Val275Ala
XM_011521027.1:c.*1816A>G (CDCA3)	XP_011519329.1:n.*1816A>G
XM_011521028.1:c.*1816A>G (CDCA3)	XP_011519330.1:n.*1816A>G
XM_011521029.1:c.*2034A>G (CDCA3)	XP_011519331.1:n.*2034A>G
XM_011521030.1:c.*1967A>G (CDCA3)	XP_011519332.1:n.*1967A>G
XM_011520953.3:c.827T>C (GNB3)	XP_011519255.1:p.Val276Ala
XR_001748879.2:n.3361A>G (CDCA3)
XR_001748880.2:n.2712A>G (CDCA3)
XR_001748881.2:n.2621A>G (CDCA3)
XR_002957383.1:n.2863A>G (CDCA3)
XR_002957384.1:n.3774A>G (CDCA3)
XR_002957385.1:n.3254A>G (CDCA3)
NM_001297571.2:c.824T>C (GNB3)	NP_001284500.1:p.Val275Ala
NM_002075.4:c.827T>C (GNB3) MANE Select	NP_002066.1:p.Val276Ala
NM_001297603.3:c.*1075A>G (CDCA3)	NP_001284532.1:n.*1075A>G