Canonical Allele Identifier: CA8814000

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80081679C>T , CM000679.2:g.80081679C>T	GRCh38
NC_000017.10:g.78055478C>T , CM000679.1:g.78055478C>T	GRCh37
NC_000017.9:g.75670073C>T	NCBI36
NG_029761.1:g.50048C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.1696C>T MANE Select	NP_060420.2:p.Gln566Ter
ENST00000397545.9:c.1696C>T MANE Select	ENSP00000380679.4:p.Gln566Ter
NM_001243342.1:c.1696C>T	NP_001230271.1:p.Gln566Ter
NM_001243342.2:c.1696C>T	NP_001230271.1:p.Gln566Ter
NM_017950.3:c.1696C>T	NP_060420.2:p.Gln566Ter
ENST00000374877.7:c.1696C>T	ENSP00000364011.3:p.Gln566Ter
ENST00000397545.8:c.1696C>T	ENSP00000380679.4:p.Gln566Ter
ENST00000572253.5:n.237C>T
ENST00000574799.5:n.1233C>T
XM_011524963.1:c.1606C>T	XP_011523265.1:p.Gln536Ter
XM_011524963.3:c.1606C>T	XP_011523265.1:p.Gln536Ter
XM_011524964.1:c.517C>T	XP_011523266.1:p.Gln173Ter
XM_011524964.3:c.517C>T	XP_011523266.1:p.Gln173Ter
XM_011524965.1:c.1696C>T	XP_011523267.1:p.Gln566Ter
XM_011524965.3:c.1696C>T	XP_011523267.1:p.Gln566Ter
XM_017024807.1:c.1696C>T	XP_016880296.1:p.Gln566Ter
XM_024450821.1:c.1606C>T	XP_024306589.1:p.Gln536Ter
XR_001752550.2:n.1727C>T
XR_934495.1:n.1727C>T
XR_934495.2:n.1727C>T