Canonical Allele Identifier: CA1971447

Gene: CDCA7

Linked Data

• ClinVar Variation Id: 2175480
• ClinVar RCV Id: RCV002579257
• dbSNP Id: rs749100838
• ExAC: 2:174231127 T / C
• gnomAD v2: 2-174231127-T-C
• gnomAD v3: 2-173366399-T-C
• gnomAD v4: 2-173366399-T-C
• MyVariant Identifiers: chr2:g.174231127T>C (hg19) ; chr2:g.173366399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173366399T>C , CM000664.2:g.173366399T>C	GRCh38
NC_000002.11:g.174231127T>C , CM000664.1:g.174231127T>C	GRCh37
NC_000002.10:g.173939373T>C	NCBI36
NG_047202.1:g.17383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695901.1:c.799-751T>C	ENSP00000512251.1:n.799-751T>C
ENST00000695911.1:c.930T>C	ENSP00000512262.1:n.930T>C
ENST00000695912.1:c.1149T>C	ENSP00000512263.1:p.Tyr383=
ENST00000695913.1:c.*1905T>C	ENSP00000512264.1:n.*1905T>C
ENST00000695914.1:c.912T>C	ENSP00000512265.1:p.Tyr304=
ENST00000695918.1:n.380T>C
ENST00000306721.8:c.1152T>C MANE Select	ENSP00000306968.3:p.Tyr384=
ENST00000306721.7:c.1152T>C	ENSP00000306968.3:p.Tyr384=
ENST00000347703.7:c.915T>C	ENSP00000272789.4:p.Tyr305=
ENST00000410019.3:c.789T>C	ENSP00000386833.3:p.Tyr263=
ENST00000410101.7:c.1020T>C	ENSP00000386656.3:p.Tyr340=
ENST00000467411.5:n.1769-751T>C
ENST00000496441.5:n.1906T>C
NM_031942.4:c.1152T>C	NP_114148.3:p.Tyr384=
NM_145810.2:c.915T>C	NP_665809.1:p.Tyr305=
XM_011511957.1:c.1071T>C	XP_011510259.1:p.Tyr357=
XR_923034.1:n.2050T>C
NM_031942.5:c.1152T>C MANE Select	NP_114148.3:p.Tyr384=
NM_145810.3:c.915T>C	NP_665809.1:p.Tyr305=