Canonical Allele Identifier: CA383674653

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845632-C-T
• MyVariant Identifiers: chr12:g.6954796C>T (hg19) ; chr12:g.6845632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845632C>T , CM000674.2:g.6845632C>T	GRCh38
NC_000012.11:g.6954796C>T , CM000674.1:g.6954796C>T	GRCh37
NC_000012.10:g.6825057C>T	NCBI36
NG_009100.1:g.10422C>T
NG_009100.2:g.10422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.746C>T (GNB3) MANE Select	ENSP00000229264.3:p.Ser249Phe
ENST00000229264.7:c.746C>T (GNB3)	ENSP00000229264.3:p.Ser249Phe
ENST00000422785.7:c.*1156G>A (CDCA3)	ENSP00000415142.2:n.*1156G>A
ENST00000435982.6:c.743C>T (GNB3)	ENSP00000414734.2:p.Ser248Phe
ENST00000537035.1:c.623C>T (GNB3)	ENSP00000445967.1:p.Ser208Phe
ENST00000540458.5:n.2097C>T (GNB3)
ENST00000542751.1:n.266C>T (GNB3)
ENST00000603043.1:n.1222G>A (CDCA3)
ENST00000604599.1:n.2084G>A (CDCA3)
NM_001297571.1:c.743C>T (GNB3)	NP_001284500.1:p.Ser248Phe
NM_002075.3:c.746C>T (GNB3)	NP_002066.1:p.Ser249Phe
XM_011520953.1:c.746C>T (GNB3)	XP_011519255.1:p.Ser249Phe
XM_011520954.1:c.743C>T (GNB3)	XP_011519256.1:p.Ser248Phe
XM_011521027.1:c.*1897G>A (CDCA3)	XP_011519329.1:n.*1897G>A
XM_011521028.1:c.*1897G>A (CDCA3)	XP_011519330.1:n.*1897G>A
XM_011521029.1:c.*2115G>A (CDCA3)	XP_011519331.1:n.*2115G>A
XM_011521030.1:c.*2048G>A (CDCA3)	XP_011519332.1:n.*2048G>A
XM_011520953.3:c.746C>T (GNB3)	XP_011519255.1:p.Ser249Phe
XR_001748879.2:n.3442G>A (CDCA3)
XR_001748880.2:n.2793G>A (CDCA3)
XR_001748881.2:n.2702G>A (CDCA3)
XR_002957383.1:n.2944G>A (CDCA3)
XR_002957384.1:n.3855G>A (CDCA3)
XR_002957385.1:n.3335G>A (CDCA3)
NM_001297571.2:c.743C>T (GNB3)	NP_001284500.1:p.Ser248Phe
NM_002075.4:c.746C>T (GNB3) MANE Select	NP_002066.1:p.Ser249Phe
NM_001297603.3:c.*1156G>A (CDCA3)	NP_001284532.1:n.*1156G>A