Canonical Allele Identifier: CA401349125

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80087754A>G , CM000679.2:g.80087754A>G	GRCh38
NC_000017.10:g.78061553A>G , CM000679.1:g.78061553A>G	GRCh37
NC_000017.9:g.75676148A>G	NCBI36
NG_029761.1:g.56123A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2597A>G MANE Select	NP_060420.2:p.Asn866Ser
ENST00000397545.9:c.2597A>G MANE Select	ENSP00000380679.4:p.Asn866Ser
NM_001243342.1:c.2597A>G	NP_001230271.1:p.Asn866Ser
NM_001243342.2:c.2597A>G	NP_001230271.1:p.Asn866Ser
NM_017950.3:c.2597A>G	NP_060420.2:p.Asn866Ser
ENST00000374877.7:c.2597A>G	ENSP00000364011.3:p.Asn866Ser
ENST00000397545.8:c.2597A>G	ENSP00000380679.4:p.Asn866Ser
ENST00000572253.5:n.2614A>G
ENST00000574799.5:n.2134A>G
ENST00000574933.1:n.52A>G
ENST00000575431.1:n.241A>G
XM_011524963.1:c.2507A>G	XP_011523265.1:p.Asn836Ser
XM_011524963.3:c.2507A>G	XP_011523265.1:p.Asn836Ser
XM_011524964.1:c.1418A>G	XP_011523266.1:p.Asn473Ser
XM_011524964.3:c.1418A>G	XP_011523266.1:p.Asn473Ser
XM_024450821.1:c.2507A>G	XP_024306589.1:p.Asn836Ser
XR_001752550.2:n.2628A>G
XR_934495.1:n.2628A>G
XR_934495.2:n.2628A>G