Canonical Allele Identifier: CA13705388

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs2301338
• gnomAD v2: 12-6954552-G-A
• gnomAD v3: 12-6845388-G-A
• gnomAD v4: 12-6845388-G-A
• MyVariant Identifiers: chr12:g.6954552G>A (hg19) ; chr12:g.6845388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845388G>A , CM000674.2:g.6845388G>A	GRCh38
NC_000012.11:g.6954552G>A , CM000674.1:g.6954552G>A	GRCh37
NC_000012.10:g.6824813G>A	NCBI36
NG_009100.1:g.10178G>A
NG_009100.2:g.10178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-198G>A (GNB3) MANE Select	ENSP00000229264.3:n.700-198G>A
ENST00000229264.7:c.700-198G>A (GNB3)	ENSP00000229264.3:n.700-198G>A
ENST00000422785.7:c.*1400C>T (CDCA3)	ENSP00000415142.2:n.*1400C>T
ENST00000435982.6:c.697-198G>A (GNB3)	ENSP00000414734.2:n.697-198G>A
ENST00000537035.1:c.577-198G>A (GNB3)	ENSP00000445967.1:n.577-198G>A
ENST00000540458.5:n.2051-198G>A (GNB3)
ENST00000542751.1:n.22G>A (GNB3)
ENST00000603043.1:n.1466C>T (CDCA3)
ENST00000604599.1:n.2328C>T (CDCA3)
NM_001297571.1:c.697-198G>A (GNB3)	NP_001284500.1:n.697-198G>A
NM_002075.3:c.700-198G>A (GNB3)	NP_002066.1:n.700-198G>A
XM_011520953.1:c.700-198G>A (GNB3)	XP_011519255.1:n.700-198G>A
XM_011520954.1:c.697-198G>A (GNB3)	XP_011519256.1:n.697-198G>A
XM_011521027.1:c.*2141C>T (CDCA3)	XP_011519329.1:n.*2141C>T
XM_011521028.1:c.*2141C>T (CDCA3)	XP_011519330.1:n.*2141C>T
XM_011521029.1:c.*2359C>T (CDCA3)	XP_011519331.1:n.*2359C>T
XM_011521030.1:c.*2292C>T (CDCA3)	XP_011519332.1:n.*2292C>T
XM_011520953.3:c.700-198G>A (GNB3)	XP_011519255.1:n.700-198G>A
XR_001748879.2:n.3686C>T (CDCA3)
XR_001748880.2:n.3037C>T (CDCA3)
XR_001748881.2:n.2946C>T (CDCA3)
XR_002957383.1:n.3188C>T (CDCA3)
XR_002957384.1:n.4099C>T (CDCA3)
XR_002957385.1:n.3579C>T (CDCA3)
NM_001297571.2:c.697-198G>A (GNB3)	NP_001284500.1:n.697-198G>A
NM_002075.4:c.700-198G>A (GNB3) MANE Select	NP_002066.1:n.700-198G>A
NM_001297603.3:c.*1400C>T (CDCA3)	NP_001284532.1:n.*1400C>T