Canonical Allele Identifier: CA8814552

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095356G>C , CM000679.2:g.80095356G>C	GRCh38
NC_000017.10:g.78069155G>C , CM000679.1:g.78069155G>C	GRCh37
NC_000017.9:g.75683750G>C	NCBI36
NG_029761.1:g.63725G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2926G>C MANE Select	NP_060420.2:p.Glu976Gln
ENST00000397545.9:c.2926G>C MANE Select	ENSP00000380679.4:p.Glu976Gln
NM_017950.3:c.2926G>C	NP_060420.2:p.Glu976Gln
ENST00000397545.8:c.2926G>C	ENSP00000380679.4:p.Glu976Gln
ENST00000572253.5:n.3177G>C
ENST00000574799.5:n.2463G>C
XM_011524963.1:c.2836G>C	XP_011523265.1:p.Glu946Gln
XM_011524963.3:c.2836G>C	XP_011523265.1:p.Glu946Gln
XM_011524964.1:c.1747G>C	XP_011523266.1:p.Glu583Gln
XM_011524964.3:c.1747G>C	XP_011523266.1:p.Glu583Gln
XM_024450821.1:c.2836G>C	XP_024306589.1:p.Glu946Gln
XR_934495.2:n.3044G>C