Canonical Allele Identifier: CA6417677

Gene: GNB3 CDCA3

Linked Data

• ClinVar Variation Id: 2121565
• ClinVar RCV Id: RCV003043257
• dbSNP Id: rs782572749
• ExAC: 12:6954883 T / C
• gnomAD v2: 12-6954883-T-C
• gnomAD v4: 12-6845719-T-C
• MyVariant Identifiers: chr12:g.6954883T>C (hg19) ; chr12:g.6845719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845719T>C , CM000674.2:g.6845719T>C	GRCh38
NC_000012.11:g.6954883T>C , CM000674.1:g.6954883T>C	GRCh37
NC_000012.10:g.6825144T>C	NCBI36
NG_009100.1:g.10509T>C
NG_009100.2:g.10509T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.833T>C (GNB3) MANE Select	ENSP00000229264.3:p.Phe278Ser
ENST00000229264.7:c.833T>C (GNB3)	ENSP00000229264.3:p.Phe278Ser
ENST00000422785.7:c.*1069A>G (CDCA3)	ENSP00000415142.2:n.*1069A>G
ENST00000435982.6:c.830T>C (GNB3)	ENSP00000414734.2:p.Phe277Ser
ENST00000537035.1:c.710T>C (GNB3)	ENSP00000445967.1:p.Phe237Ser
ENST00000540458.5:n.2184T>C (GNB3)
ENST00000542751.1:n.353T>C (GNB3)
ENST00000603043.1:n.1135A>G (CDCA3)
ENST00000604599.1:n.1997A>G (CDCA3)
NM_001297571.1:c.830T>C (GNB3)	NP_001284500.1:p.Phe277Ser
NM_002075.3:c.833T>C (GNB3)	NP_002066.1:p.Phe278Ser
XM_011520953.1:c.833T>C (GNB3)	XP_011519255.1:p.Phe278Ser
XM_011520954.1:c.830T>C (GNB3)	XP_011519256.1:p.Phe277Ser
XM_011521027.1:c.*1810A>G (CDCA3)	XP_011519329.1:n.*1810A>G
XM_011521028.1:c.*1810A>G (CDCA3)	XP_011519330.1:n.*1810A>G
XM_011521029.1:c.*2028A>G (CDCA3)	XP_011519331.1:n.*2028A>G
XM_011521030.1:c.*1961A>G (CDCA3)	XP_011519332.1:n.*1961A>G
XM_011520953.3:c.833T>C (GNB3)	XP_011519255.1:p.Phe278Ser
XR_001748879.2:n.3355A>G (CDCA3)
XR_001748880.2:n.2706A>G (CDCA3)
XR_001748881.2:n.2615A>G (CDCA3)
XR_002957383.1:n.2857A>G (CDCA3)
XR_002957384.1:n.3768A>G (CDCA3)
XR_002957385.1:n.3248A>G (CDCA3)
NM_001297571.2:c.830T>C (GNB3)	NP_001284500.1:p.Phe277Ser
NM_002075.4:c.833T>C (GNB3) MANE Select	NP_002066.1:p.Phe278Ser
NM_001297603.3:c.*1069A>G (CDCA3)	NP_001284532.1:n.*1069A>G