Canonical Allele Identifier: CA232401057

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs782355827
• gnomAD v2: 12-6954689-C-T
• gnomAD v3: 12-6845525-C-T
• gnomAD v4: 12-6845525-C-T
• MyVariant Identifiers: chr12:g.6954689C>T (hg19) ; chr12:g.6845525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845525C>T , CM000674.2:g.6845525C>T	GRCh38
NC_000012.11:g.6954689C>T , CM000674.1:g.6954689C>T	GRCh37
NC_000012.10:g.6824950C>T	NCBI36
NG_009100.1:g.10315C>T
NG_009100.2:g.10315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-61C>T (GNB3) MANE Select	ENSP00000229264.3:n.700-61C>T
ENST00000229264.7:c.700-61C>T (GNB3)	ENSP00000229264.3:n.700-61C>T
ENST00000422785.7:c.*1263G>A (CDCA3)	ENSP00000415142.2:n.*1263G>A
ENST00000435982.6:c.697-61C>T (GNB3)	ENSP00000414734.2:n.697-61C>T
ENST00000537035.1:c.577-61C>T (GNB3)	ENSP00000445967.1:n.577-61C>T
ENST00000540458.5:n.2051-61C>T (GNB3)
ENST00000542751.1:n.159C>T (GNB3)
ENST00000603043.1:n.1329G>A (CDCA3)
ENST00000604599.1:n.2191G>A (CDCA3)
NM_001297571.1:c.697-61C>T (GNB3)	NP_001284500.1:n.697-61C>T
NM_002075.3:c.700-61C>T (GNB3)	NP_002066.1:n.700-61C>T
XM_011520953.1:c.700-61C>T (GNB3)	XP_011519255.1:n.700-61C>T
XM_011520954.1:c.697-61C>T (GNB3)	XP_011519256.1:n.697-61C>T
XM_011521027.1:c.*2004G>A (CDCA3)	XP_011519329.1:n.*2004G>A
XM_011521028.1:c.*2004G>A (CDCA3)	XP_011519330.1:n.*2004G>A
XM_011521029.1:c.*2222G>A (CDCA3)	XP_011519331.1:n.*2222G>A
XM_011521030.1:c.*2155G>A (CDCA3)	XP_011519332.1:n.*2155G>A
XM_011520953.3:c.700-61C>T (GNB3)	XP_011519255.1:n.700-61C>T
XR_001748879.2:n.3549G>A (CDCA3)
XR_001748880.2:n.2900G>A (CDCA3)
XR_001748881.2:n.2809G>A (CDCA3)
XR_002957383.1:n.3051G>A (CDCA3)
XR_002957384.1:n.3962G>A (CDCA3)
XR_002957385.1:n.3442G>A (CDCA3)
NM_001297571.2:c.697-61C>T (GNB3)	NP_001284500.1:n.697-61C>T
NM_002075.4:c.700-61C>T (GNB3) MANE Select	NP_002066.1:n.700-61C>T
NM_001297603.3:c.*1263G>A (CDCA3)	NP_001284532.1:n.*1263G>A