Canonical Allele Identifier: CA8813803
Gene: CCDC40 HGNC NCBI

Linked Data

ClinVar Variation Id: 414641
dbSNP Id: rs372976809

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80058912G>A , CM000679.2:g.80058912G>A GRCh38
NC_000017.10:g.78032711G>A , CM000679.1:g.78032711G>A GRCh37
NC_000017.9:g.75647306G>A NCBI36
NG_029761.1:g.27281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.1372G>A MANE Select ENSP00000380679.4:p.Ala458Thr
ENST00000269318.9:c.1372G>A ENSP00000269318.5:p.Ala458Thr
ENST00000374876.4:c.1317+261G>A ENSP00000364010.4:n.1317+261G>A
ENST00000374877.7:c.1372G>A ENSP00000364011.3:p.Ala458Thr
ENST00000397545.8:c.1372G>A ENSP00000380679.4:p.Ala458Thr
ENST00000574799.5:n.909G>A
NM_001243342.1:c.1372G>A NP_001230271.1:p.Ala458Thr
NM_017950.3:c.1372G>A NP_060420.2:p.Ala458Thr
XM_005257492.3:c.1372G>A XP_005257549.1:p.Ala458Thr
XM_011524963.1:c.1282G>A XP_011523265.1:p.Ala428Thr
XM_011524964.1:c.193G>A XP_011523266.1:p.Ala65Thr
XM_011524965.1:c.1372G>A XP_011523267.1:p.Ala458Thr
XR_934495.1:n.1403G>A
NM_001330508.1:c.1372G>A NP_001317437.1:p.Ala458Thr
XM_011524963.3:c.1282G>A XP_011523265.1:p.Ala428Thr
XM_011524964.3:c.193G>A XP_011523266.1:p.Ala65Thr
XM_011524965.3:c.1372G>A XP_011523267.1:p.Ala458Thr
XM_017024807.1:c.1372G>A XP_016880296.1:p.Ala458Thr
XM_024450821.1:c.1282G>A XP_024306589.1:p.Ala428Thr
XR_001752550.2:n.1403G>A
XR_934495.2:n.1403G>A
NM_017950.4:c.1372G>A MANE Select NP_060420.2:p.Ala458Thr
NM_001330508.2:c.1372G>A NP_001317437.1:p.Ala458Thr
NM_001243342.2:c.1372G>A NP_001230271.1:p.Ala458Thr