Canonical Allele Identifier: CA8814578

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095464G>A , CM000679.2:g.80095464G>A	GRCh38
NC_000017.10:g.78069263G>A , CM000679.1:g.78069263G>A	GRCh37
NC_000017.9:g.75683858G>A	NCBI36
NG_029761.1:g.63833G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3021+13G>A MANE Select	NP_060420.2:n.3021+13G>A
ENST00000397545.9:c.3021+13G>A MANE Select	ENSP00000380679.4:n.3021+13G>A
NM_017950.3:c.3021+13G>A	NP_060420.2:n.3021+13G>A
ENST00000397545.8:c.3021+13G>A	ENSP00000380679.4:n.3021+13G>A
ENST00000572253.5:n.3272+13G>A
ENST00000574799.5:n.2558+13G>A
XM_011524963.1:c.2931+13G>A	XP_011523265.1:n.2931+13G>A
XM_011524963.3:c.2931+13G>A	XP_011523265.1:n.2931+13G>A
XM_011524964.1:c.1842+13G>A	XP_011523266.1:n.1842+13G>A
XM_011524964.3:c.1842+13G>A	XP_011523266.1:n.1842+13G>A
XM_024450821.1:c.2931+13G>A	XP_024306589.1:n.2931+13G>A
XR_934495.2:n.3139+13G>A