Canonical Allele Identifier: CA294882515

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099690G>A , CM000679.2:g.80099690G>A	GRCh38
NC_000017.10:g.78073489G>A , CM000679.1:g.78073489G>A	GRCh37
NC_000017.9:g.75688084G>A	NCBI36
NG_009822.1:g.3135G>A , LRG_673:g.3135G>A
NG_029761.1:g.68059G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3344G>A MANE Select	NP_060420.2:p.Arg1115Gln
ENST00000397545.9:c.3344G>A MANE Select	ENSP00000380679.4:p.Arg1115Gln
NM_017950.3:c.3344G>A	NP_060420.2:p.Arg1115Gln
ENST00000397545.8:c.3344G>A	ENSP00000380679.4:p.Arg1115Gln
ENST00000574799.5:n.2881G>A
XM_011524963.1:c.3254G>A	XP_011523265.1:p.Arg1085Gln
XM_011524963.3:c.3254G>A	XP_011523265.1:p.Arg1085Gln
XM_011524964.1:c.2165G>A	XP_011523266.1:p.Arg722Gln
XM_011524964.3:c.2165G>A	XP_011523266.1:p.Arg722Gln
XM_024450821.1:c.3254G>A	XP_024306589.1:p.Arg1085Gln
XR_934495.2:n.3462G>A