Canonical Allele Identifier: CA349330637

Gene: CDCA7

Linked Data

• dbSNP Id: rs1366332447
• gnomAD v2: 2-174231071-C-G
• gnomAD v4: 2-173366343-C-G
• MyVariant Identifiers: chr2:g.174231071C>G (hg19) ; chr2:g.173366343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173366343C>G , CM000664.2:g.173366343C>G	GRCh38
NC_000002.11:g.174231071C>G , CM000664.1:g.174231071C>G	GRCh37
NC_000002.10:g.173939317C>G	NCBI36
NG_047202.1:g.17327C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695901.1:c.798+751C>G	ENSP00000512251.1:n.798+751C>G
ENST00000695911.1:c.874C>G	ENSP00000512262.1:n.874C>G
ENST00000695912.1:c.1093C>G	ENSP00000512263.1:p.Pro365Ala
ENST00000695913.1:c.*1849C>G	ENSP00000512264.1:n.*1849C>G
ENST00000695914.1:c.856C>G	ENSP00000512265.1:p.Pro286Ala
ENST00000695918.1:n.324C>G
ENST00000306721.8:c.1096C>G MANE Select	ENSP00000306968.3:p.Pro366Ala
ENST00000306721.7:c.1096C>G	ENSP00000306968.3:p.Pro366Ala
ENST00000347703.7:c.859C>G	ENSP00000272789.4:p.Pro287Ala
ENST00000410019.3:c.733C>G	ENSP00000386833.3:p.Pro245Ala
ENST00000410101.7:c.964C>G	ENSP00000386656.3:p.Pro322Ala
ENST00000467411.5:n.1768+751C>G
ENST00000496441.5:n.1850C>G
NM_031942.4:c.1096C>G	NP_114148.3:p.Pro366Ala
NM_145810.2:c.859C>G	NP_665809.1:p.Pro287Ala
XM_011511957.1:c.1015C>G	XP_011510259.1:p.Pro339Ala
XR_923034.1:n.1994C>G
NM_031942.5:c.1096C>G MANE Select	NP_114148.3:p.Pro366Ala
NM_145810.3:c.859C>G	NP_665809.1:p.Pro287Ala