Canonical Allele Identifier: CA8814117

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80084909G>A , CM000679.2:g.80084909G>A	GRCh38
NC_000017.10:g.78058708G>A , CM000679.1:g.78058708G>A	GRCh37
NC_000017.9:g.75673303G>A	NCBI36
NG_029761.1:g.53278G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2156G>A MANE Select	NP_060420.2:p.Arg719His
ENST00000397545.9:c.2156G>A MANE Select	ENSP00000380679.4:p.Arg719His
NM_001243342.1:c.2156G>A	NP_001230271.1:p.Arg719His
NM_001243342.2:c.2156G>A	NP_001230271.1:p.Arg719His
NM_017950.3:c.2156G>A	NP_060420.2:p.Arg719His
ENST00000374877.7:c.2156G>A	ENSP00000364011.3:p.Arg719His
ENST00000397545.8:c.2156G>A	ENSP00000380679.4:p.Arg719His
ENST00000572253.5:n.783G>A
ENST00000574799.5:n.1693G>A
XM_011524963.1:c.2066G>A	XP_011523265.1:p.Arg689His
XM_011524963.3:c.2066G>A	XP_011523265.1:p.Arg689His
XM_011524964.1:c.977G>A	XP_011523266.1:p.Arg326His
XM_011524964.3:c.977G>A	XP_011523266.1:p.Arg326His
XM_024450821.1:c.2066G>A	XP_024306589.1:p.Arg689His
XR_001752550.2:n.2187G>A
XR_934495.1:n.2187G>A
XR_934495.2:n.2187G>A