Canonical Allele Identifier: CA478155885

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845636-C-T
• COSMIC: COSM5051903
• MyVariant Identifiers: chr12:g.6954800C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845636C>T , CM000674.2:g.6845636C>T	GRCh38
NC_000012.11:g.6954800C>T , CM000674.1:g.6954800C>T	GRCh37
NC_000012.10:g.6825061C>T	NCBI36
NG_009100.1:g.10426C>T
NG_009100.2:g.10426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.750C>T (GNB3) MANE Select	ENSP00000229264.3:p.Cys250=
ENST00000229264.7:c.750C>T (GNB3)	ENSP00000229264.3:p.Cys250=
ENST00000422785.7:c.*1152G>A (CDCA3)	ENSP00000415142.2:n.*1152G>A
ENST00000435982.6:c.747C>T (GNB3)	ENSP00000414734.2:p.Cys249=
ENST00000537035.1:c.627C>T (GNB3)	ENSP00000445967.1:p.Cys209=
ENST00000540458.5:n.2101C>T (GNB3)
ENST00000542751.1:n.270C>T (GNB3)
ENST00000603043.1:n.1218G>A (CDCA3)
ENST00000604599.1:n.2080G>A (CDCA3)
NM_001297571.1:c.747C>T (GNB3)	NP_001284500.1:p.Cys249=
NM_002075.3:c.750C>T (GNB3)	NP_002066.1:p.Cys250=
XM_011520953.1:c.750C>T (GNB3)	XP_011519255.1:p.Cys250=
XM_011520954.1:c.747C>T (GNB3)	XP_011519256.1:p.Cys249=
XM_011521027.1:c.*1893G>A (CDCA3)	XP_011519329.1:n.*1893G>A
XM_011521028.1:c.*1893G>A (CDCA3)	XP_011519330.1:n.*1893G>A
XM_011521029.1:c.*2111G>A (CDCA3)	XP_011519331.1:n.*2111G>A
XM_011521030.1:c.*2044G>A (CDCA3)	XP_011519332.1:n.*2044G>A
XM_011520953.3:c.750C>T (GNB3)	XP_011519255.1:p.Cys250=
XR_001748879.2:n.3438G>A (CDCA3)
XR_001748880.2:n.2789G>A (CDCA3)
XR_001748881.2:n.2698G>A (CDCA3)
XR_002957383.1:n.2940G>A (CDCA3)
XR_002957384.1:n.3851G>A (CDCA3)
XR_002957385.1:n.3331G>A (CDCA3)
NM_001297571.2:c.747C>T (GNB3)	NP_001284500.1:p.Cys249=
NM_002075.4:c.750C>T (GNB3) MANE Select	NP_002066.1:p.Cys250=
NM_001297603.3:c.*1152G>A (CDCA3)	NP_001284532.1:n.*1152G>A