Canonical Allele Identifier: CA1971445

Gene: CDCA7

Linked Data

• ClinVar Variation Id: 1415033
• ClinVar RCV Id: RCV001932882
• dbSNP Id: rs748528043
• ExAC: 2:174231117 G / A
• gnomAD v2: 2-174231117-G-A
• gnomAD v3: 2-173366389-G-A
• gnomAD v4: 2-173366389-G-A
• COSMIC: COSM6452387
• MyVariant Identifiers: chr2:g.174231117G>A (hg19) ; chr2:g.173366389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173366389G>A , CM000664.2:g.173366389G>A	GRCh38
NC_000002.11:g.174231117G>A , CM000664.1:g.174231117G>A	GRCh37
NC_000002.10:g.173939363G>A	NCBI36
NG_047202.1:g.17373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695901.1:c.799-761G>A	ENSP00000512251.1:n.799-761G>A
ENST00000695911.1:c.920G>A	ENSP00000512262.1:n.920G>A
ENST00000695912.1:c.1139G>A	ENSP00000512263.1:p.Arg380Gln
ENST00000695913.1:c.*1895G>A	ENSP00000512264.1:n.*1895G>A
ENST00000695914.1:c.902G>A	ENSP00000512265.1:p.Arg301Gln
ENST00000695918.1:n.370G>A
ENST00000306721.8:c.1142G>A MANE Select	ENSP00000306968.3:p.Arg381Gln
ENST00000306721.7:c.1142G>A	ENSP00000306968.3:p.Arg381Gln
ENST00000347703.7:c.905G>A	ENSP00000272789.4:p.Arg302Gln
ENST00000410019.3:c.779G>A	ENSP00000386833.3:p.Arg260Gln
ENST00000410101.7:c.1010G>A	ENSP00000386656.3:p.Arg337Gln
ENST00000467411.5:n.1769-761G>A
ENST00000496441.5:n.1896G>A
NM_031942.4:c.1142G>A	NP_114148.3:p.Arg381Gln
NM_145810.2:c.905G>A	NP_665809.1:p.Arg302Gln
XM_011511957.1:c.1061G>A	XP_011510259.1:p.Arg354Gln
XR_923034.1:n.2040G>A
NM_031942.5:c.1142G>A MANE Select	NP_114148.3:p.Arg381Gln
NM_145810.3:c.905G>A	NP_665809.1:p.Arg302Gln