Canonical Allele Identifier: CA691212122

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs1201742686
• gnomAD v4: 12-6845529-A-G
• MyVariant Identifiers: chr12:g.6845529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845529A>G , CM000674.2:g.6845529A>G	GRCh38
NC_000012.11:g.6954693A>G , CM000674.1:g.6954693A>G	GRCh37
NC_000012.10:g.6824954A>G	NCBI36
NG_009100.1:g.10319A>G
NG_009100.2:g.10319A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.700-57A>G (GNB3) MANE Select	ENSP00000229264.3:n.700-57A>G
ENST00000229264.7:c.700-57A>G (GNB3)	ENSP00000229264.3:n.700-57A>G
ENST00000422785.7:c.*1259T>C (CDCA3)	ENSP00000415142.2:n.*1259T>C
ENST00000435982.6:c.697-57A>G (GNB3)	ENSP00000414734.2:n.697-57A>G
ENST00000537035.1:c.577-57A>G (GNB3)	ENSP00000445967.1:n.577-57A>G
ENST00000540458.5:n.2051-57A>G (GNB3)
ENST00000542751.1:n.163A>G (GNB3)
ENST00000603043.1:n.1325T>C (CDCA3)
ENST00000604599.1:n.2187T>C (CDCA3)
NM_001297571.1:c.697-57A>G (GNB3)	NP_001284500.1:n.697-57A>G
NM_002075.3:c.700-57A>G (GNB3)	NP_002066.1:n.700-57A>G
XM_011520953.1:c.700-57A>G (GNB3)	XP_011519255.1:n.700-57A>G
XM_011520954.1:c.697-57A>G (GNB3)	XP_011519256.1:n.697-57A>G
XM_011521027.1:c.*2000T>C (CDCA3)	XP_011519329.1:n.*2000T>C
XM_011521028.1:c.*2000T>C (CDCA3)	XP_011519330.1:n.*2000T>C
XM_011521029.1:c.*2218T>C (CDCA3)	XP_011519331.1:n.*2218T>C
XM_011521030.1:c.*2151T>C (CDCA3)	XP_011519332.1:n.*2151T>C
XM_011520953.3:c.700-57A>G (GNB3)	XP_011519255.1:n.700-57A>G
XR_001748879.2:n.3545T>C (CDCA3)
XR_001748880.2:n.2896T>C (CDCA3)
XR_001748881.2:n.2805T>C (CDCA3)
XR_002957383.1:n.3047T>C (CDCA3)
XR_002957384.1:n.3958T>C (CDCA3)
XR_002957385.1:n.3438T>C (CDCA3)
NM_001297571.2:c.697-57A>G (GNB3)	NP_001284500.1:n.697-57A>G
NM_002075.4:c.700-57A>G (GNB3) MANE Select	NP_002066.1:n.700-57A>G
NM_001297603.3:c.*1259T>C (CDCA3)	NP_001284532.1:n.*1259T>C