Canonical Allele Identifier: CA8813609

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80049951C>T , CM000679.2:g.80049951C>T	GRCh38
NC_000017.10:g.78023750C>T , CM000679.1:g.78023750C>T	GRCh37
NC_000017.9:g.75638345C>T	NCBI36
NG_029761.1:g.18320C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.901C>T MANE Select	NP_060420.2:p.Arg301Ter
ENST00000397545.9:c.901C>T MANE Select	ENSP00000380679.4:p.Arg301Ter
NM_001243342.1:c.901C>T	NP_001230271.1:p.Arg301Ter
NM_001243342.2:c.901C>T	NP_001230271.1:p.Arg301Ter
NM_001330508.1:c.901C>T	NP_001317437.1:p.Arg301Ter
NM_001330508.2:c.901C>T	NP_001317437.1:p.Arg301Ter
NM_017950.3:c.901C>T	NP_060420.2:p.Arg301Ter
ENST00000269318.9:c.901C>T	ENSP00000269318.5:p.Arg301Ter
ENST00000374876.4:c.901C>T	ENSP00000364010.4:p.Arg301Ter
ENST00000374877.7:c.901C>T	ENSP00000364011.3:p.Arg301Ter
ENST00000397545.8:c.901C>T	ENSP00000380679.4:p.Arg301Ter
ENST00000573474.5:c.355C>T
ENST00000574799.5:n.438C>T
XM_005257492.3:c.901C>T	XP_005257549.1:p.Arg301Ter
XM_011524963.1:c.811C>T	XP_011523265.1:p.Arg271Ter
XM_011524963.3:c.811C>T	XP_011523265.1:p.Arg271Ter
XM_011524965.1:c.901C>T	XP_011523267.1:p.Arg301Ter
XM_011524965.3:c.901C>T	XP_011523267.1:p.Arg301Ter
XM_017024807.1:c.901C>T	XP_016880296.1:p.Arg301Ter
XM_024450821.1:c.811C>T	XP_024306589.1:p.Arg271Ter
XR_001752550.2:n.932C>T
XR_934495.1:n.932C>T
XR_934495.2:n.932C>T