Canonical Allele Identifier: CA691212119

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs1188893047
• gnomAD v4: 12-6845527-G-A
• MyVariant Identifiers: chr12:g.6845527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845527G>A , CM000674.2:g.6845527G>A	GRCh38
NC_000012.11:g.6954691G>A , CM000674.1:g.6954691G>A	GRCh37
NC_000012.10:g.6824952G>A	NCBI36
NG_009100.1:g.10317G>A
NG_009100.2:g.10317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-59G>A (GNB3) MANE Select	ENSP00000229264.3:n.700-59G>A
ENST00000229264.7:c.700-59G>A (GNB3)	ENSP00000229264.3:n.700-59G>A
ENST00000422785.7:c.*1261C>T (CDCA3)	ENSP00000415142.2:n.*1261C>T
ENST00000435982.6:c.697-59G>A (GNB3)	ENSP00000414734.2:n.697-59G>A
ENST00000537035.1:c.577-59G>A (GNB3)	ENSP00000445967.1:n.577-59G>A
ENST00000540458.5:n.2051-59G>A (GNB3)
ENST00000542751.1:n.161G>A (GNB3)
ENST00000603043.1:n.1327C>T (CDCA3)
ENST00000604599.1:n.2189C>T (CDCA3)
NM_001297571.1:c.697-59G>A (GNB3)	NP_001284500.1:n.697-59G>A
NM_002075.3:c.700-59G>A (GNB3)	NP_002066.1:n.700-59G>A
XM_011520953.1:c.700-59G>A (GNB3)	XP_011519255.1:n.700-59G>A
XM_011520954.1:c.697-59G>A (GNB3)	XP_011519256.1:n.697-59G>A
XM_011521027.1:c.*2002C>T (CDCA3)	XP_011519329.1:n.*2002C>T
XM_011521028.1:c.*2002C>T (CDCA3)	XP_011519330.1:n.*2002C>T
XM_011521029.1:c.*2220C>T (CDCA3)	XP_011519331.1:n.*2220C>T
XM_011521030.1:c.*2153C>T (CDCA3)	XP_011519332.1:n.*2153C>T
XM_011520953.3:c.700-59G>A (GNB3)	XP_011519255.1:n.700-59G>A
XR_001748879.2:n.3547C>T (CDCA3)
XR_001748880.2:n.2898C>T (CDCA3)
XR_001748881.2:n.2807C>T (CDCA3)
XR_002957383.1:n.3049C>T (CDCA3)
XR_002957384.1:n.3960C>T (CDCA3)
XR_002957385.1:n.3440C>T (CDCA3)
NM_001297571.2:c.697-59G>A (GNB3)	NP_001284500.1:n.697-59G>A
NM_002075.4:c.700-59G>A (GNB3) MANE Select	NP_002066.1:n.700-59G>A
NM_001297603.3:c.*1261C>T (CDCA3)	NP_001284532.1:n.*1261C>T