Canonical Allele Identifier: CA2277788044

Gene: CCDC40

Linked Data

• dbSNP Id: rs2037819704

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058799G>A , CM000679.2:g.80058799G>A	GRCh38
NC_000017.10:g.78032598G>A , CM000679.1:g.78032598G>A	GRCh37
NC_000017.9:g.75647193G>A	NCBI36
NG_029761.1:g.27168G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.1318-59G>A MANE Select	ENSP00000380679.4:n.1318-59G>A
ENST00000269318.9:c.1318-59G>A	ENSP00000269318.5:n.1318-59G>A
ENST00000374876.4:c.1317+148G>A	ENSP00000364010.4:n.1317+148G>A
ENST00000374877.7:c.1318-59G>A	ENSP00000364011.3:n.1318-59G>A
ENST00000397545.8:c.1318-59G>A	ENSP00000380679.4:n.1318-59G>A
ENST00000574799.5:n.855-59G>A
NM_001243342.1:c.1318-59G>A	NP_001230271.1:n.1318-59G>A
NM_017950.3:c.1318-59G>A	NP_060420.2:n.1318-59G>A
XM_005257492.3:c.1318-59G>A	XP_005257549.1:n.1318-59G>A
XM_011524963.1:c.1228-59G>A	XP_011523265.1:n.1228-59G>A
XM_011524964.1:c.139-59G>A	XP_011523266.1:n.139-59G>A
XM_011524965.1:c.1318-59G>A	XP_011523267.1:n.1318-59G>A
XR_934495.1:n.1349-59G>A
NM_001330508.1:c.1318-59G>A	NP_001317437.1:n.1318-59G>A
XM_011524963.3:c.1228-59G>A	XP_011523265.1:n.1228-59G>A
XM_011524964.3:c.139-59G>A	XP_011523266.1:n.139-59G>A
XM_011524965.3:c.1318-59G>A	XP_011523267.1:n.1318-59G>A
XM_017024807.1:c.1318-59G>A	XP_016880296.1:n.1318-59G>A
XM_024450821.1:c.1228-59G>A	XP_024306589.1:n.1228-59G>A
XR_001752550.2:n.1349-59G>A
XR_934495.2:n.1349-59G>A
NM_017950.4:c.1318-59G>A MANE Select	NP_060420.2:n.1318-59G>A
NM_001330508.2:c.1318-59G>A	NP_001317437.1:n.1318-59G>A
NM_001243342.2:c.1318-59G>A	NP_001230271.1:n.1318-59G>A