Canonical Allele Identifier: CA8813463

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80040270G>A , CM000679.2:g.80040270G>A	GRCh38
NC_000017.10:g.78014069G>A , CM000679.1:g.78014069G>A	GRCh37
NC_000017.9:g.75628664G>A	NCBI36
NG_029761.1:g.8639G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.552G>A MANE Select	NP_060420.2:p.Leu184=
ENST00000397545.9:c.552G>A MANE Select	ENSP00000380679.4:p.Leu184=
NM_001243342.1:c.552G>A	NP_001230271.1:p.Leu184=
NM_001243342.2:c.552G>A	NP_001230271.1:p.Leu184=
NM_001330508.1:c.552G>A	NP_001317437.1:p.Leu184=
NM_001330508.2:c.552G>A	NP_001317437.1:p.Leu184=
NM_017950.3:c.552G>A	NP_060420.2:p.Leu184=
ENST00000269318.9:c.552G>A	ENSP00000269318.5:p.Leu184=
ENST00000374876.4:c.552G>A	ENSP00000364010.4:p.Leu184=
ENST00000374877.7:c.552G>A	ENSP00000364011.3:p.Leu184=
ENST00000397545.8:c.552G>A	ENSP00000380679.4:p.Leu184=
ENST00000572083.5:n.551G>A
ENST00000573474.5:c.36+230G>A
ENST00000576241.1:n.538G>A
XM_005257492.3:c.552G>A	XP_005257549.1:p.Leu184=
XM_011524963.1:c.462G>A	XP_011523265.1:p.Leu154=
XM_011524963.3:c.462G>A	XP_011523265.1:p.Leu154=
XM_011524965.1:c.552G>A	XP_011523267.1:p.Leu184=
XM_011524965.3:c.552G>A	XP_011523267.1:p.Leu184=
XM_017024807.1:c.552G>A	XP_016880296.1:p.Leu184=
XM_024450821.1:c.462G>A	XP_024306589.1:p.Leu154=
XR_001752550.2:n.583G>A
XR_934495.1:n.583G>A
XR_934495.2:n.583G>A