Canonical Allele Identifier: CA232402418

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs951198182
• gnomAD v4: 12-6847212-C-A
• MyVariant Identifiers: chr12:g.6847212C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6847212C>A , CM000674.2:g.6847212C>A	GRCh38
NC_000012.11:g.6956376C>A , CM000674.1:g.6956376C>A	GRCh37
NC_000012.10:g.6826637C>A	NCBI36
NG_009100.1:g.12002C>A
NG_009100.2:g.12002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.*314C>A (GNB3) MANE Select	ENSP00000229264.3:n.*314C>A
ENST00000229264.7:c.*314C>A (GNB3)	ENSP00000229264.3:n.*314C>A
ENST00000422785.7:c.545-309G>T (CDCA3)	ENSP00000415142.2:n.545-309G>T
ENST00000540458.5:n.2688C>A (GNB3)
ENST00000542751.1:n.857C>A (GNB3)
ENST00000603043.1:n.308-309G>T (CDCA3)
ENST00000604599.1:n.813-309G>T (CDCA3)
NM_001297571.1:c.*314C>A (GNB3)	NP_001284500.1:n.*314C>A
NM_001297603.1:c.545-309G>T (CDCA3)	NP_001284532.1:n.545-309G>T
NM_002075.3:c.*314C>A (GNB3)	NP_002066.1:n.*314C>A
XM_011521027.1:c.*983-309G>T (CDCA3)	XP_011519329.1:n.*983-309G>T
XM_011521028.1:c.*983-309G>T (CDCA3)	XP_011519330.1:n.*983-309G>T
XM_011521029.1:c.*1201-309G>T (CDCA3)	XP_011519331.1:n.*1201-309G>T
XM_011521030.1:c.*1134-309G>T (CDCA3)	XP_011519332.1:n.*1134-309G>T
NM_001297603.2:c.545-309G>T (CDCA3)	NP_001284532.1:n.545-309G>T
XR_001748879.2:n.2528-309G>T (CDCA3)
XR_001748880.2:n.1879-309G>T (CDCA3)
XR_001748881.2:n.1788-309G>T (CDCA3)
XR_002957383.1:n.2030-309G>T (CDCA3)
XR_002957384.1:n.2941-309G>T (CDCA3)
XR_002957385.1:n.2421-309G>T (CDCA3)
NM_001297571.2:c.*314C>A (GNB3)	NP_001284500.1:n.*314C>A
NM_002075.4:c.*314C>A (GNB3) MANE Select	NP_002066.1:n.*314C>A
NM_001297603.3:c.545-309G>T (CDCA3)	NP_001284532.1:n.545-309G>T