Canonical Allele Identifier: CA2546704167

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6847116-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6847116C>A , CM000674.2:g.6847116C>A	GRCh38
NC_000012.11:g.6956280C>A , CM000674.1:g.6956280C>A	GRCh37
NC_000012.10:g.6826541C>A	NCBI36
NG_009100.1:g.11906C>A
NG_009100.2:g.11906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.*218C>A (GNB3) MANE Select	ENSP00000229264.3:n.*218C>A
ENST00000229264.7:c.*218C>A (GNB3)	ENSP00000229264.3:n.*218C>A
ENST00000422785.7:c.545-213G>T (CDCA3)	ENSP00000415142.2:n.545-213G>T
ENST00000540458.5:n.2592C>A (GNB3)
ENST00000542751.1:n.761C>A (GNB3)
ENST00000603043.1:n.308-213G>T (CDCA3)
ENST00000604599.1:n.813-213G>T (CDCA3)
NM_001297571.1:c.*218C>A (GNB3)	NP_001284500.1:n.*218C>A
NM_001297603.1:c.545-213G>T (CDCA3)	NP_001284532.1:n.545-213G>T
NM_002075.3:c.*218C>A (GNB3)	NP_002066.1:n.*218C>A
XM_011521027.1:c.*983-213G>T (CDCA3)	XP_011519329.1:n.*983-213G>T
XM_011521028.1:c.*983-213G>T (CDCA3)	XP_011519330.1:n.*983-213G>T
XM_011521029.1:c.*1201-213G>T (CDCA3)	XP_011519331.1:n.*1201-213G>T
XM_011521030.1:c.*1134-213G>T (CDCA3)	XP_011519332.1:n.*1134-213G>T
NM_001297603.2:c.545-213G>T (CDCA3)	NP_001284532.1:n.545-213G>T
XR_001748879.2:n.2528-213G>T (CDCA3)
XR_001748880.2:n.1879-213G>T (CDCA3)
XR_001748881.2:n.1788-213G>T (CDCA3)
XR_002957383.1:n.2030-213G>T (CDCA3)
XR_002957384.1:n.2941-213G>T (CDCA3)
XR_002957385.1:n.2421-213G>T (CDCA3)
NM_001297571.2:c.*218C>A (GNB3)	NP_001284500.1:n.*218C>A
NM_002075.4:c.*218C>A (GNB3) MANE Select	NP_002066.1:n.*218C>A
NM_001297603.3:c.545-213G>T (CDCA3)	NP_001284532.1:n.545-213G>T