Canonical Allele Identifier: CA401345508

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80038188T>C , CM000679.2:g.80038188T>C	GRCh38
NC_000017.10:g.78011987T>C , CM000679.1:g.78011987T>C	GRCh37
NC_000017.9:g.75626582T>C	NCBI36
NG_029761.1:g.6557T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.93+2T>C MANE Select	NP_060420.2:n.93+2T>C
ENST00000397545.9:c.93+2T>C MANE Select	ENSP00000380679.4:n.93+2T>C
NM_001243342.1:c.93+2T>C	NP_001230271.1:n.93+2T>C
NM_001243342.2:c.93+2T>C	NP_001230271.1:n.93+2T>C
NM_001330508.1:c.93+2T>C	NP_001317437.1:n.93+2T>C
NM_001330508.2:c.93+2T>C	NP_001317437.1:n.93+2T>C
NM_017950.3:c.93+2T>C	NP_060420.2:n.93+2T>C
ENST00000269318.9:c.93+2T>C	ENSP00000269318.5:n.93+2T>C
ENST00000374876.4:c.93+2T>C	ENSP00000364010.4:n.93+2T>C
ENST00000374877.7:c.93+2T>C	ENSP00000364011.3:n.93+2T>C
ENST00000397545.8:c.93+2T>C	ENSP00000380679.4:n.93+2T>C
ENST00000572083.5:n.92+2T>C
ENST00000572270.1:n.106+1431T>C
ENST00000574099.1:c.3+2T>C	ENSP00000460002.1:n.3+2T>C
ENST00000576033.5:c.3+2T>C	ENSP00000459489.1:n.3+2T>C
ENST00000576241.1:n.79+2T>C
XM_005257492.3:c.93+2T>C	XP_005257549.1:n.93+2T>C
XM_011524963.1:c.3+2T>C	XP_011523265.1:n.3+2T>C
XM_011524963.3:c.3+2T>C	XP_011523265.1:n.3+2T>C
XM_011524965.1:c.93+2T>C	XP_011523267.1:n.93+2T>C
XM_011524965.3:c.93+2T>C	XP_011523267.1:n.93+2T>C
XM_017024807.1:c.93+2T>C	XP_016880296.1:n.93+2T>C
XM_024450821.1:c.3+2T>C	XP_024306589.1:n.3+2T>C
XR_001752550.2:n.124+2T>C
XR_934495.1:n.124+2T>C
XR_934495.2:n.124+2T>C