Canonical Allele Identifier: CA383675212

Gene: GNB3 CDCA3

Linked Data

• MyVariant Identifiers: chr12:g.6954888C>A (hg19) ; chr12:g.6845724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845724C>A , CM000674.2:g.6845724C>A	GRCh38
NC_000012.11:g.6954888C>A , CM000674.1:g.6954888C>A	GRCh37
NC_000012.10:g.6825149C>A	NCBI36
NG_009100.1:g.10514C>A
NG_009100.2:g.10514C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.838C>A (GNB3) MANE Select	ENSP00000229264.3:p.Leu280Ile
ENST00000229264.7:c.838C>A (GNB3)	ENSP00000229264.3:p.Leu280Ile
ENST00000422785.7:c.*1064G>T (CDCA3)	ENSP00000415142.2:n.*1064G>T
ENST00000435982.6:c.835C>A (GNB3)	ENSP00000414734.2:p.Leu279Ile
ENST00000537035.1:c.715C>A (GNB3)	ENSP00000445967.1:p.Leu239Ile
ENST00000540458.5:n.2189C>A (GNB3)
ENST00000542751.1:n.358C>A (GNB3)
ENST00000603043.1:n.1130G>T (CDCA3)
ENST00000604599.1:n.1992G>T (CDCA3)
NM_001297571.1:c.835C>A (GNB3)	NP_001284500.1:p.Leu279Ile
NM_002075.3:c.838C>A (GNB3)	NP_002066.1:p.Leu280Ile
XM_011520953.1:c.838C>A (GNB3)	XP_011519255.1:p.Leu280Ile
XM_011520954.1:c.835C>A (GNB3)	XP_011519256.1:p.Leu279Ile
XM_011521027.1:c.*1805G>T (CDCA3)	XP_011519329.1:n.*1805G>T
XM_011521028.1:c.*1805G>T (CDCA3)	XP_011519330.1:n.*1805G>T
XM_011521029.1:c.*2023G>T (CDCA3)	XP_011519331.1:n.*2023G>T
XM_011521030.1:c.*1956G>T (CDCA3)	XP_011519332.1:n.*1956G>T
XM_011520953.3:c.838C>A (GNB3)	XP_011519255.1:p.Leu280Ile
XR_001748879.2:n.3350G>T (CDCA3)
XR_001748880.2:n.2701G>T (CDCA3)
XR_001748881.2:n.2610G>T (CDCA3)
XR_002957383.1:n.2852G>T (CDCA3)
XR_002957384.1:n.3763G>T (CDCA3)
XR_002957385.1:n.3243G>T (CDCA3)
NM_001297571.2:c.835C>A (GNB3)	NP_001284500.1:p.Leu279Ile
NM_002075.4:c.838C>A (GNB3) MANE Select	NP_002066.1:p.Leu280Ile
NM_001297603.3:c.*1064G>T (CDCA3)	NP_001284532.1:n.*1064G>T