Canonical Allele Identifier: CA8814555

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095366G>A , CM000679.2:g.80095366G>A	GRCh38
NC_000017.10:g.78069165G>A , CM000679.1:g.78069165G>A	GRCh37
NC_000017.9:g.75683760G>A	NCBI36
NG_029761.1:g.63735G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2936G>A MANE Select	NP_060420.2:p.Arg979His
ENST00000397545.9:c.2936G>A MANE Select	ENSP00000380679.4:p.Arg979His
NM_017950.3:c.2936G>A	NP_060420.2:p.Arg979His
ENST00000397545.8:c.2936G>A	ENSP00000380679.4:p.Arg979His
ENST00000572253.5:n.3187G>A
ENST00000574799.5:n.2473G>A
XM_011524963.1:c.2846G>A	XP_011523265.1:p.Arg949His
XM_011524963.3:c.2846G>A	XP_011523265.1:p.Arg949His
XM_011524964.1:c.1757G>A	XP_011523266.1:p.Arg586His
XM_011524964.3:c.1757G>A	XP_011523266.1:p.Arg586His
XM_024450821.1:c.2846G>A	XP_024306589.1:p.Arg949His
XR_934495.2:n.3054G>A