Canonical Allele Identifier: CA6417637

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs782322516
• ExAC: 12:6954701 T / G
• gnomAD v2: 12-6954701-T-G
• gnomAD v4: 12-6845537-T-G
• MyVariant Identifiers: chr12:g.6954701T>G (hg19) ; chr12:g.6845537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845537T>G , CM000674.2:g.6845537T>G	GRCh38
NC_000012.11:g.6954701T>G , CM000674.1:g.6954701T>G	GRCh37
NC_000012.10:g.6824962T>G	NCBI36
NG_009100.1:g.10327T>G
NG_009100.2:g.10327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-49T>G (GNB3) MANE Select	ENSP00000229264.3:n.700-49T>G
ENST00000229264.7:c.700-49T>G (GNB3)	ENSP00000229264.3:n.700-49T>G
ENST00000422785.7:c.*1251A>C (CDCA3)	ENSP00000415142.2:n.*1251A>C
ENST00000435982.6:c.697-49T>G (GNB3)	ENSP00000414734.2:n.697-49T>G
ENST00000537035.1:c.577-49T>G (GNB3)	ENSP00000445967.1:n.577-49T>G
ENST00000540458.5:n.2051-49T>G (GNB3)
ENST00000542751.1:n.171T>G (GNB3)
ENST00000603043.1:n.1317A>C (CDCA3)
ENST00000604599.1:n.2179A>C (CDCA3)
NM_001297571.1:c.697-49T>G (GNB3)	NP_001284500.1:n.697-49T>G
NM_002075.3:c.700-49T>G (GNB3)	NP_002066.1:n.700-49T>G
XM_011520953.1:c.700-49T>G (GNB3)	XP_011519255.1:n.700-49T>G
XM_011520954.1:c.697-49T>G (GNB3)	XP_011519256.1:n.697-49T>G
XM_011521027.1:c.*1992A>C (CDCA3)	XP_011519329.1:n.*1992A>C
XM_011521028.1:c.*1992A>C (CDCA3)	XP_011519330.1:n.*1992A>C
XM_011521029.1:c.*2210A>C (CDCA3)	XP_011519331.1:n.*2210A>C
XM_011521030.1:c.*2143A>C (CDCA3)	XP_011519332.1:n.*2143A>C
XM_011520953.3:c.700-49T>G (GNB3)	XP_011519255.1:n.700-49T>G
XR_001748879.2:n.3537A>C (CDCA3)
XR_001748880.2:n.2888A>C (CDCA3)
XR_001748881.2:n.2797A>C (CDCA3)
XR_002957383.1:n.3039A>C (CDCA3)
XR_002957384.1:n.3950A>C (CDCA3)
XR_002957385.1:n.3430A>C (CDCA3)
NM_001297571.2:c.697-49T>G (GNB3)	NP_001284500.1:n.697-49T>G
NM_002075.4:c.700-49T>G (GNB3) MANE Select	NP_002066.1:n.700-49T>G
NM_001297603.3:c.*1251A>C (CDCA3)	NP_001284532.1:n.*1251A>C