Canonical Allele Identifier: CA401358103

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099695G>T , CM000679.2:g.80099695G>T	GRCh38
NC_000017.10:g.78073494G>T , CM000679.1:g.78073494G>T	GRCh37
NC_000017.9:g.75688089G>T	NCBI36
NG_009822.1:g.3140G>T , LRG_673:g.3140G>T
NG_029761.1:g.68064G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3349G>T MANE Select	NP_060420.2:p.Glu1117Ter
ENST00000397545.9:c.3349G>T MANE Select	ENSP00000380679.4:p.Glu1117Ter
NM_017950.3:c.3349G>T	NP_060420.2:p.Glu1117Ter
ENST00000397545.8:c.3349G>T	ENSP00000380679.4:p.Glu1117Ter
ENST00000574799.5:n.2886G>T
XM_011524963.1:c.3259G>T	XP_011523265.1:p.Glu1087Ter
XM_011524963.3:c.3259G>T	XP_011523265.1:p.Glu1087Ter
XM_011524964.1:c.2170G>T	XP_011523266.1:p.Glu724Ter
XM_011524964.3:c.2170G>T	XP_011523266.1:p.Glu724Ter
XM_024450821.1:c.3259G>T	XP_024306589.1:p.Glu1087Ter
XR_934495.2:n.3467G>T