Canonical Allele Identifier: CA383674611

Gene: GNB3 CDCA3

Linked Data

• MyVariant Identifiers: chr12:g.6954789G>C (hg19) ; chr12:g.6845625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845625G>C , CM000674.2:g.6845625G>C	GRCh38
NC_000012.11:g.6954789G>C , CM000674.1:g.6954789G>C	GRCh37
NC_000012.10:g.6825050G>C	NCBI36
NG_009100.1:g.10415G>C
NG_009100.2:g.10415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.739G>C (GNB3) MANE Select	ENSP00000229264.3:p.Asp247His
ENST00000229264.7:c.739G>C (GNB3)	ENSP00000229264.3:p.Asp247His
ENST00000422785.7:c.*1163C>G (CDCA3)	ENSP00000415142.2:n.*1163C>G
ENST00000435982.6:c.736G>C (GNB3)	ENSP00000414734.2:p.Asp246His
ENST00000537035.1:c.616G>C (GNB3)	ENSP00000445967.1:p.Asp206His
ENST00000540458.5:n.2090G>C (GNB3)
ENST00000542751.1:n.259G>C (GNB3)
ENST00000603043.1:n.1229C>G (CDCA3)
ENST00000604599.1:n.2091C>G (CDCA3)
NM_001297571.1:c.736G>C (GNB3)	NP_001284500.1:p.Asp246His
NM_002075.3:c.739G>C (GNB3)	NP_002066.1:p.Asp247His
XM_011520953.1:c.739G>C (GNB3)	XP_011519255.1:p.Asp247His
XM_011520954.1:c.736G>C (GNB3)	XP_011519256.1:p.Asp246His
XM_011521027.1:c.*1904C>G (CDCA3)	XP_011519329.1:n.*1904C>G
XM_011521028.1:c.*1904C>G (CDCA3)	XP_011519330.1:n.*1904C>G
XM_011521029.1:c.*2122C>G (CDCA3)	XP_011519331.1:n.*2122C>G
XM_011521030.1:c.*2055C>G (CDCA3)	XP_011519332.1:n.*2055C>G
XM_011520953.3:c.739G>C (GNB3)	XP_011519255.1:p.Asp247His
XR_001748879.2:n.3449C>G (CDCA3)
XR_001748880.2:n.2800C>G (CDCA3)
XR_001748881.2:n.2709C>G (CDCA3)
XR_002957383.1:n.2951C>G (CDCA3)
XR_002957384.1:n.3862C>G (CDCA3)
XR_002957385.1:n.3342C>G (CDCA3)
NM_001297571.2:c.736G>C (GNB3)	NP_001284500.1:p.Asp246His
NM_002075.4:c.739G>C (GNB3) MANE Select	NP_002066.1:p.Asp247His
NM_001297603.3:c.*1163C>G (CDCA3)	NP_001284532.1:n.*1163C>G