Canonical Allele Identifier: CA478156147

Gene: GNB3 CDCA3

Linked Data

• ClinVar Variation Id: 2817755
• ClinVar RCV Id: RCV003711399
• MyVariant Identifiers: chr12:g.6954875C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845711C>G , CM000674.2:g.6845711C>G	GRCh38
NC_000012.11:g.6954875C>G , CM000674.1:g.6954875C>G	GRCh37
NC_000012.10:g.6825136C>G	NCBI36
NG_009100.1:g.10501C>G
NG_009100.2:g.10501C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.825C>G (GNB3) MANE Select	ENSP00000229264.3:p.Ser275=
ENST00000229264.7:c.825C>G (GNB3)	ENSP00000229264.3:p.Ser275=
ENST00000422785.7:c.*1077G>C (CDCA3)	ENSP00000415142.2:n.*1077G>C
ENST00000435982.6:c.822C>G (GNB3)	ENSP00000414734.2:p.Ser274=
ENST00000537035.1:c.702C>G (GNB3)	ENSP00000445967.1:p.Ser234=
ENST00000540458.5:n.2176C>G (GNB3)
ENST00000542751.1:n.345C>G (GNB3)
ENST00000603043.1:n.1143G>C (CDCA3)
ENST00000604599.1:n.2005G>C (CDCA3)
NM_001297571.1:c.822C>G (GNB3)	NP_001284500.1:p.Ser274=
NM_002075.3:c.825C>G (GNB3)	NP_002066.1:p.Ser275=
XM_011520953.1:c.825C>G (GNB3)	XP_011519255.1:p.Ser275=
XM_011520954.1:c.822C>G (GNB3)	XP_011519256.1:p.Ser274=
XM_011521027.1:c.*1818G>C (CDCA3)	XP_011519329.1:n.*1818G>C
XM_011521028.1:c.*1818G>C (CDCA3)	XP_011519330.1:n.*1818G>C
XM_011521029.1:c.*2036G>C (CDCA3)	XP_011519331.1:n.*2036G>C
XM_011521030.1:c.*1969G>C (CDCA3)	XP_011519332.1:n.*1969G>C
XM_011520953.3:c.825C>G (GNB3)	XP_011519255.1:p.Ser275=
XR_001748879.2:n.3363G>C (CDCA3)
XR_001748880.2:n.2714G>C (CDCA3)
XR_001748881.2:n.2623G>C (CDCA3)
XR_002957383.1:n.2865G>C (CDCA3)
XR_002957384.1:n.3776G>C (CDCA3)
XR_002957385.1:n.3256G>C (CDCA3)
NM_001297571.2:c.822C>G (GNB3)	NP_001284500.1:p.Ser274=
NM_002075.4:c.825C>G (GNB3) MANE Select	NP_002066.1:p.Ser275=
NM_001297603.3:c.*1077G>C (CDCA3)	NP_001284532.1:n.*1077G>C