Canonical Allele Identifier: CA478156162

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs1555124511
• gnomAD v2: 12-6954884-C-T
• gnomAD v3: 12-6845720-C-T
• gnomAD v4: 12-6845720-C-T
• MyVariant Identifiers: chr12:g.6954884C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845720C>T , CM000674.2:g.6845720C>T	GRCh38
NC_000012.11:g.6954884C>T , CM000674.1:g.6954884C>T	GRCh37
NC_000012.10:g.6825145C>T	NCBI36
NG_009100.1:g.10510C>T
NG_009100.2:g.10510C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229264.8:c.834C>T (GNB3) MANE Select	ENSP00000229264.3:p.Phe278=
ENST00000229264.7:c.834C>T (GNB3)	ENSP00000229264.3:p.Phe278=
ENST00000422785.7:c.*1068G>A (CDCA3)	ENSP00000415142.2:n.*1068G>A
ENST00000435982.6:c.831C>T (GNB3)	ENSP00000414734.2:p.Phe277=
ENST00000537035.1:c.711C>T (GNB3)	ENSP00000445967.1:p.Phe237=
ENST00000540458.5:n.2185C>T (GNB3)
ENST00000542751.1:n.354C>T (GNB3)
ENST00000603043.1:n.1134G>A (CDCA3)
ENST00000604599.1:n.1996G>A (CDCA3)
NM_001297571.1:c.831C>T (GNB3)	NP_001284500.1:p.Phe277=
NM_002075.3:c.834C>T (GNB3)	NP_002066.1:p.Phe278=
XM_011520953.1:c.834C>T (GNB3)	XP_011519255.1:p.Phe278=
XM_011520954.1:c.831C>T (GNB3)	XP_011519256.1:p.Phe277=
XM_011521027.1:c.*1809G>A (CDCA3)	XP_011519329.1:n.*1809G>A
XM_011521028.1:c.*1809G>A (CDCA3)	XP_011519330.1:n.*1809G>A
XM_011521029.1:c.*2027G>A (CDCA3)	XP_011519331.1:n.*2027G>A
XM_011521030.1:c.*1960G>A (CDCA3)	XP_011519332.1:n.*1960G>A
XM_011520953.3:c.834C>T (GNB3)	XP_011519255.1:p.Phe278=
XR_001748879.2:n.3354G>A (CDCA3)
XR_001748880.2:n.2705G>A (CDCA3)
XR_001748881.2:n.2614G>A (CDCA3)
XR_002957383.1:n.2856G>A (CDCA3)
XR_002957384.1:n.3767G>A (CDCA3)
XR_002957385.1:n.3247G>A (CDCA3)
NM_001297571.2:c.831C>T (GNB3)	NP_001284500.1:p.Phe277=
NM_002075.4:c.834C>T (GNB3) MANE Select	NP_002066.1:p.Phe278=
NM_001297603.3:c.*1068G>A (CDCA3)	NP_001284532.1:n.*1068G>A