Canonical Allele Identifier: CA8814337

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089830C>T , CM000679.2:g.80089830C>T	GRCh38
NC_000017.10:g.78063629C>T , CM000679.1:g.78063629C>T	GRCh37
NC_000017.9:g.75678224C>T	NCBI36
NG_029761.1:g.58199C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2778C>T MANE Select	NP_060420.2:p.Ser926=
ENST00000397545.9:c.2778C>T MANE Select	ENSP00000380679.4:p.Ser926=
NM_001243342.1:c.2778C>T	NP_001230271.1:p.Ser926=
NM_001243342.2:c.2778C>T	NP_001230271.1:p.Ser926=
NM_017950.3:c.2778C>T	NP_060420.2:p.Ser926=
ENST00000374877.7:c.2778C>T	ENSP00000364011.3:p.Ser926=
ENST00000397545.8:c.2778C>T	ENSP00000380679.4:p.Ser926=
ENST00000572253.5:n.3029C>T
ENST00000573903.1:n.440C>T
ENST00000574799.5:n.2315C>T
ENST00000575431.1:n.422C>T
XM_011524963.1:c.2688C>T	XP_011523265.1:p.Ser896=
XM_011524963.3:c.2688C>T	XP_011523265.1:p.Ser896=
XM_011524964.1:c.1599C>T	XP_011523266.1:p.Ser533=
XM_011524964.3:c.1599C>T	XP_011523266.1:p.Ser533=
XM_024450821.1:c.2688C>T	XP_024306589.1:p.Ser896=
XR_934495.1:n.2896C>T
XR_934495.2:n.2896C>T