Canonical Allele Identifier: CA913680714

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs1565520180
• gnomAD v2: 12-6954636-G-C
• gnomAD v3: 12-6845472-G-C
• gnomAD v4: 12-6845472-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845472G>C , CM000674.2:g.6845472G>C	GRCh38
NC_000012.11:g.6954636G>C , CM000674.1:g.6954636G>C	GRCh37
NC_000012.10:g.6824897G>C	NCBI36
NG_009100.1:g.10262G>C
NG_009100.2:g.10262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-114G>C (GNB3) MANE Select	ENSP00000229264.3:n.700-114G>C
ENST00000229264.7:c.700-114G>C (GNB3)	ENSP00000229264.3:n.700-114G>C
ENST00000422785.7:c.*1316C>G (CDCA3)	ENSP00000415142.2:n.*1316C>G
ENST00000435982.6:c.697-114G>C (GNB3)	ENSP00000414734.2:n.697-114G>C
ENST00000537035.1:c.577-114G>C (GNB3)	ENSP00000445967.1:n.577-114G>C
ENST00000540458.5:n.2051-114G>C (GNB3)
ENST00000542751.1:n.106G>C (GNB3)
ENST00000603043.1:n.1382C>G (CDCA3)
ENST00000604599.1:n.2244C>G (CDCA3)
NM_001297571.1:c.697-114G>C (GNB3)	NP_001284500.1:n.697-114G>C
NM_002075.3:c.700-114G>C (GNB3)	NP_002066.1:n.700-114G>C
XM_011520953.1:c.700-114G>C (GNB3)	XP_011519255.1:n.700-114G>C
XM_011520954.1:c.697-114G>C (GNB3)	XP_011519256.1:n.697-114G>C
XM_011521027.1:c.*2057C>G (CDCA3)	XP_011519329.1:n.*2057C>G
XM_011521028.1:c.*2057C>G (CDCA3)	XP_011519330.1:n.*2057C>G
XM_011521029.1:c.*2275C>G (CDCA3)	XP_011519331.1:n.*2275C>G
XM_011521030.1:c.*2208C>G (CDCA3)	XP_011519332.1:n.*2208C>G
XM_011520953.3:c.700-114G>C (GNB3)	XP_011519255.1:n.700-114G>C
XR_001748879.2:n.3602C>G (CDCA3)
XR_001748880.2:n.2953C>G (CDCA3)
XR_001748881.2:n.2862C>G (CDCA3)
XR_002957383.1:n.3104C>G (CDCA3)
XR_002957384.1:n.4015C>G (CDCA3)
XR_002957385.1:n.3495C>G (CDCA3)
NM_001297571.2:c.697-114G>C (GNB3)	NP_001284500.1:n.697-114G>C
NM_002075.4:c.700-114G>C (GNB3) MANE Select	NP_002066.1:n.700-114G>C
NM_001297603.3:c.*1316C>G (CDCA3)	NP_001284532.1:n.*1316C>G