Canonical Allele Identifier: CA986706405

Gene: CCDC40

Linked Data

• dbSNP Id: rs2038600712
• gnomAD v3: 17-80086960-G-A
• gnomAD v4: 17-80086960-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086960G>A , CM000679.2:g.80086960G>A	GRCh38
NC_000017.10:g.78060759G>A , CM000679.1:g.78060759G>A	GRCh37
NC_000017.9:g.75675354G>A	NCBI36
NG_029761.1:g.55329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2450-647G>A MANE Select	ENSP00000380679.4:n.2450-647G>A
ENST00000374877.7:c.2450-647G>A	ENSP00000364011.3:n.2450-647G>A
ENST00000397545.8:c.2450-647G>A	ENSP00000380679.4:n.2450-647G>A
ENST00000572253.5:n.1820G>A
ENST00000574799.5:n.1987-647G>A
NM_001243342.1:c.2450-647G>A	NP_001230271.1:n.2450-647G>A
NM_017950.3:c.2450-647G>A	NP_060420.2:n.2450-647G>A
XM_011524963.1:c.2360-647G>A	XP_011523265.1:n.2360-647G>A
XM_011524964.1:c.1271-647G>A	XP_011523266.1:n.1271-647G>A
XR_934495.1:n.2481-647G>A
XM_011524963.3:c.2360-647G>A	XP_011523265.1:n.2360-647G>A
XM_011524964.3:c.1271-647G>A	XP_011523266.1:n.1271-647G>A
XM_024450821.1:c.2360-647G>A	XP_024306589.1:n.2360-647G>A
XR_001752550.2:n.2481-647G>A
XR_934495.2:n.2481-647G>A
NM_017950.4:c.2450-647G>A MANE Select	NP_060420.2:n.2450-647G>A
NM_001243342.2:c.2450-647G>A	NP_001230271.1:n.2450-647G>A