Canonical Allele Identifier: CA8814528

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095271C>T , CM000679.2:g.80095271C>T	GRCh38
NC_000017.10:g.78069070C>T , CM000679.1:g.78069070C>T	GRCh37
NC_000017.9:g.75683665C>T	NCBI36
NG_029761.1:g.63640C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2841C>T MANE Select	NP_060420.2:p.Leu947=
ENST00000397545.9:c.2841C>T MANE Select	ENSP00000380679.4:p.Leu947=
NM_017950.3:c.2841C>T	NP_060420.2:p.Leu947=
ENST00000397545.8:c.2841C>T	ENSP00000380679.4:p.Leu947=
ENST00000572253.5:n.3092C>T
ENST00000574799.5:n.2378C>T
ENST00000575431.1:n.485C>T
XM_011524963.1:c.2751C>T	XP_011523265.1:p.Leu917=
XM_011524963.3:c.2751C>T	XP_011523265.1:p.Leu917=
XM_011524964.1:c.1662C>T	XP_011523266.1:p.Leu554=
XM_011524964.3:c.1662C>T	XP_011523266.1:p.Leu554=
XM_024450821.1:c.2751C>T	XP_024306589.1:p.Leu917=
XR_934495.2:n.2959C>T