Canonical Allele Identifier: CA6417675

Gene: GNB3 CDCA3

Linked Data

• ClinVar Variation Id: 1932365
• ClinVar RCV Id: RCV002622529
• dbSNP Id: rs201226859
• ExAC: 12:6954876 G / A
• gnomAD v2: 12-6954876-G-A
• gnomAD v3: 12-6845712-G-A
• gnomAD v4: 12-6845712-G-A
• COSMIC: COSM5454162
• MyVariant Identifiers: chr12:g.6954876G>A (hg19) ; chr12:g.6845712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845712G>A , CM000674.2:g.6845712G>A	GRCh38
NC_000012.11:g.6954876G>A , CM000674.1:g.6954876G>A	GRCh37
NC_000012.10:g.6825137G>A	NCBI36
NG_009100.1:g.10502G>A
NG_009100.2:g.10502G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.826G>A (GNB3) MANE Select	ENSP00000229264.3:p.Val276Met
ENST00000229264.7:c.826G>A (GNB3)	ENSP00000229264.3:p.Val276Met
ENST00000422785.7:c.*1076C>T (CDCA3)	ENSP00000415142.2:n.*1076C>T
ENST00000435982.6:c.823G>A (GNB3)	ENSP00000414734.2:p.Val275Met
ENST00000537035.1:c.703G>A (GNB3)	ENSP00000445967.1:p.Val235Met
ENST00000540458.5:n.2177G>A (GNB3)
ENST00000542751.1:n.346G>A (GNB3)
ENST00000603043.1:n.1142C>T (CDCA3)
ENST00000604599.1:n.2004C>T (CDCA3)
NM_001297571.1:c.823G>A (GNB3)	NP_001284500.1:p.Val275Met
NM_002075.3:c.826G>A (GNB3)	NP_002066.1:p.Val276Met
XM_011520953.1:c.826G>A (GNB3)	XP_011519255.1:p.Val276Met
XM_011520954.1:c.823G>A (GNB3)	XP_011519256.1:p.Val275Met
XM_011521027.1:c.*1817C>T (CDCA3)	XP_011519329.1:n.*1817C>T
XM_011521028.1:c.*1817C>T (CDCA3)	XP_011519330.1:n.*1817C>T
XM_011521029.1:c.*2035C>T (CDCA3)	XP_011519331.1:n.*2035C>T
XM_011521030.1:c.*1968C>T (CDCA3)	XP_011519332.1:n.*1968C>T
XM_011520953.3:c.826G>A (GNB3)	XP_011519255.1:p.Val276Met
XR_001748879.2:n.3362C>T (CDCA3)
XR_001748880.2:n.2713C>T (CDCA3)
XR_001748881.2:n.2622C>T (CDCA3)
XR_002957383.1:n.2864C>T (CDCA3)
XR_002957384.1:n.3775C>T (CDCA3)
XR_002957385.1:n.3255C>T (CDCA3)
NM_001297571.2:c.823G>A (GNB3)	NP_001284500.1:p.Val275Met
NM_002075.4:c.826G>A (GNB3) MANE Select	NP_002066.1:p.Val276Met
NM_001297603.3:c.*1076C>T (CDCA3)	NP_001284532.1:n.*1076C>T