Canonical Allele Identifier: CA1971446

Gene: CDCA7

Linked Data

• ClinVar Variation Id: 225531
• ClinVar RCV Id: RCV000210909 ; RCV003884409
• dbSNP Id: rs772929976
• ExAC: 2:174231123 G / A
• gnomAD v2: 2-174231123-G-A
• gnomAD v3: 2-173366395-G-A
• gnomAD v4: 2-173366395-G-A
• COSMIC: COSM2152182
• MyVariant Identifiers: chr2:g.174231123G>A (hg19) ; chr2:g.173366395G>A (hg38)
• PubMed: PMID:26216346

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173366395G>A , CM000664.2:g.173366395G>A	GRCh38
NC_000002.11:g.174231123G>A , CM000664.1:g.174231123G>A	GRCh37
NC_000002.10:g.173939369G>A	NCBI36
NG_047202.1:g.17379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695901.1:c.799-755G>A	ENSP00000512251.1:n.799-755G>A
ENST00000695911.1:c.926G>A	ENSP00000512262.1:n.926G>A
ENST00000695912.1:c.1145G>A	ENSP00000512263.1:p.Arg382His
ENST00000695913.1:c.*1901G>A	ENSP00000512264.1:n.*1901G>A
ENST00000695914.1:c.908G>A	ENSP00000512265.1:p.Arg303His
ENST00000695918.1:n.376G>A
ENST00000306721.8:c.1148G>A MANE Select	ENSP00000306968.3:p.Arg383His
ENST00000306721.7:c.1148G>A	ENSP00000306968.3:p.Arg383His
ENST00000347703.7:c.911G>A	ENSP00000272789.4:p.Arg304His
ENST00000410019.3:c.785G>A	ENSP00000386833.3:p.Arg262His
ENST00000410101.7:c.1016G>A	ENSP00000386656.3:p.Arg339His
ENST00000467411.5:n.1769-755G>A
ENST00000496441.5:n.1902G>A
NM_031942.4:c.1148G>A	NP_114148.3:p.Arg383His
NM_145810.2:c.911G>A	NP_665809.1:p.Arg304His
XM_011511957.1:c.1067G>A	XP_011510259.1:p.Arg356His
XR_923034.1:n.2046G>A
NM_031942.5:c.1148G>A MANE Select	NP_114148.3:p.Arg383His
NM_145810.3:c.911G>A	NP_665809.1:p.Arg304His