Canonical Allele Identifier: CA383674677

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845637-C-G
• MyVariant Identifiers: chr12:g.6954801C>G (hg19) ; chr12:g.6845637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845637C>G , CM000674.2:g.6845637C>G	GRCh38
NC_000012.11:g.6954801C>G , CM000674.1:g.6954801C>G	GRCh37
NC_000012.10:g.6825062C>G	NCBI36
NG_009100.1:g.10427C>G
NG_009100.2:g.10427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.751C>G (GNB3) MANE Select	ENSP00000229264.3:p.Arg251Gly
ENST00000229264.7:c.751C>G (GNB3)	ENSP00000229264.3:p.Arg251Gly
ENST00000422785.7:c.*1151G>C (CDCA3)	ENSP00000415142.2:n.*1151G>C
ENST00000435982.6:c.748C>G (GNB3)	ENSP00000414734.2:p.Arg250Gly
ENST00000537035.1:c.628C>G (GNB3)	ENSP00000445967.1:p.Arg210Gly
ENST00000540458.5:n.2102C>G (GNB3)
ENST00000542751.1:n.271C>G (GNB3)
ENST00000603043.1:n.1217G>C (CDCA3)
ENST00000604599.1:n.2079G>C (CDCA3)
NM_001297571.1:c.748C>G (GNB3)	NP_001284500.1:p.Arg250Gly
NM_002075.3:c.751C>G (GNB3)	NP_002066.1:p.Arg251Gly
XM_011520953.1:c.751C>G (GNB3)	XP_011519255.1:p.Arg251Gly
XM_011520954.1:c.748C>G (GNB3)	XP_011519256.1:p.Arg250Gly
XM_011521027.1:c.*1892G>C (CDCA3)	XP_011519329.1:n.*1892G>C
XM_011521028.1:c.*1892G>C (CDCA3)	XP_011519330.1:n.*1892G>C
XM_011521029.1:c.*2110G>C (CDCA3)	XP_011519331.1:n.*2110G>C
XM_011521030.1:c.*2043G>C (CDCA3)	XP_011519332.1:n.*2043G>C
XM_011520953.3:c.751C>G (GNB3)	XP_011519255.1:p.Arg251Gly
XR_001748879.2:n.3437G>C (CDCA3)
XR_001748880.2:n.2788G>C (CDCA3)
XR_001748881.2:n.2697G>C (CDCA3)
XR_002957383.1:n.2939G>C (CDCA3)
XR_002957384.1:n.3850G>C (CDCA3)
XR_002957385.1:n.3330G>C (CDCA3)
NM_001297571.2:c.748C>G (GNB3)	NP_001284500.1:p.Arg250Gly
NM_002075.4:c.751C>G (GNB3) MANE Select	NP_002066.1:p.Arg251Gly
NM_001297603.3:c.*1151G>C (CDCA3)	NP_001284532.1:n.*1151G>C