Canonical Allele Identifier: CA383674638

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845629-C-T
• MyVariant Identifiers: chr12:g.6954793C>T (hg19) ; chr12:g.6845629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845629C>T , CM000674.2:g.6845629C>T	GRCh38
NC_000012.11:g.6954793C>T , CM000674.1:g.6954793C>T	GRCh37
NC_000012.10:g.6825054C>T	NCBI36
NG_009100.1:g.10419C>T
NG_009100.2:g.10419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.743C>T (GNB3) MANE Select	ENSP00000229264.3:p.Ala248Val
ENST00000229264.7:c.743C>T (GNB3)	ENSP00000229264.3:p.Ala248Val
ENST00000422785.7:c.*1159G>A (CDCA3)	ENSP00000415142.2:n.*1159G>A
ENST00000435982.6:c.740C>T (GNB3)	ENSP00000414734.2:p.Ala247Val
ENST00000537035.1:c.620C>T (GNB3)	ENSP00000445967.1:p.Ala207Val
ENST00000540458.5:n.2094C>T (GNB3)
ENST00000542751.1:n.263C>T (GNB3)
ENST00000603043.1:n.1225G>A (CDCA3)
ENST00000604599.1:n.2087G>A (CDCA3)
NM_001297571.1:c.740C>T (GNB3)	NP_001284500.1:p.Ala247Val
NM_002075.3:c.743C>T (GNB3)	NP_002066.1:p.Ala248Val
XM_011520953.1:c.743C>T (GNB3)	XP_011519255.1:p.Ala248Val
XM_011520954.1:c.740C>T (GNB3)	XP_011519256.1:p.Ala247Val
XM_011521027.1:c.*1900G>A (CDCA3)	XP_011519329.1:n.*1900G>A
XM_011521028.1:c.*1900G>A (CDCA3)	XP_011519330.1:n.*1900G>A
XM_011521029.1:c.*2118G>A (CDCA3)	XP_011519331.1:n.*2118G>A
XM_011521030.1:c.*2051G>A (CDCA3)	XP_011519332.1:n.*2051G>A
XM_011520953.3:c.743C>T (GNB3)	XP_011519255.1:p.Ala248Val
XR_001748879.2:n.3445G>A (CDCA3)
XR_001748880.2:n.2796G>A (CDCA3)
XR_001748881.2:n.2705G>A (CDCA3)
XR_002957383.1:n.2947G>A (CDCA3)
XR_002957384.1:n.3858G>A (CDCA3)
XR_002957385.1:n.3338G>A (CDCA3)
NM_001297571.2:c.740C>T (GNB3)	NP_001284500.1:p.Ala247Val
NM_002075.4:c.743C>T (GNB3) MANE Select	NP_002066.1:p.Ala248Val
NM_001297603.3:c.*1159G>A (CDCA3)	NP_001284532.1:n.*1159G>A