Canonical Allele Identifier: CA401348264

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80040118G>C , CM000679.2:g.80040118G>C	GRCh38
NC_000017.10:g.78013917G>C , CM000679.1:g.78013917G>C	GRCh37
NC_000017.9:g.75628512G>C	NCBI36
NG_029761.1:g.8487G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.400G>C MANE Select	NP_060420.2:p.Gly134Arg
ENST00000397545.9:c.400G>C MANE Select	ENSP00000380679.4:p.Gly134Arg
NM_001243342.1:c.400G>C	NP_001230271.1:p.Gly134Arg
NM_001243342.2:c.400G>C	NP_001230271.1:p.Gly134Arg
NM_001330508.1:c.400G>C	NP_001317437.1:p.Gly134Arg
NM_001330508.2:c.400G>C	NP_001317437.1:p.Gly134Arg
NM_017950.3:c.400G>C	NP_060420.2:p.Gly134Arg
ENST00000269318.9:c.400G>C	ENSP00000269318.5:p.Gly134Arg
ENST00000374876.4:c.400G>C	ENSP00000364010.4:p.Gly134Arg
ENST00000374877.7:c.400G>C	ENSP00000364011.3:p.Gly134Arg
ENST00000397545.8:c.400G>C	ENSP00000380679.4:p.Gly134Arg
ENST00000572083.5:n.399G>C
ENST00000572270.1:n.413G>C
ENST00000573474.5:c.36+78G>C
ENST00000574099.1:c.310G>C	ENSP00000460002.1:p.Gly104Arg
ENST00000576241.1:n.386G>C
XM_005257492.3:c.400G>C	XP_005257549.1:p.Gly134Arg
XM_011524963.1:c.310G>C	XP_011523265.1:p.Gly104Arg
XM_011524963.3:c.310G>C	XP_011523265.1:p.Gly104Arg
XM_011524965.1:c.400G>C	XP_011523267.1:p.Gly134Arg
XM_011524965.3:c.400G>C	XP_011523267.1:p.Gly134Arg
XM_017024807.1:c.400G>C	XP_016880296.1:p.Gly134Arg
XM_024450821.1:c.310G>C	XP_024306589.1:p.Gly104Arg
XR_001752550.2:n.431G>C
XR_934495.1:n.431G>C
XR_934495.2:n.431G>C