Canonical Allele Identifier: CA8813857
Gene: CCDC40 HGNC NCBI

Linked Data

ClinVar Variation Id: 525439
dbSNP Id: rs201739201

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80065523G>T , CM000679.2:g.80065523G>T GRCh38
NC_000017.10:g.78039322G>T , CM000679.1:g.78039322G>T GRCh37
NC_000017.9:g.75653917G>T NCBI36
NG_029761.1:g.33892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.1479G>T MANE Select ENSP00000380679.4:p.Arg493Ser
ENST00000269318.9:c.1479G>T ENSP00000269318.5:p.Arg493Ser
ENST00000374876.4:c.1318-560G>T ENSP00000364010.4:n.1318-560G>T
ENST00000374877.7:c.1479G>T ENSP00000364011.3:p.Arg493Ser
ENST00000397545.8:c.1479G>T ENSP00000380679.4:p.Arg493Ser
ENST00000571028.1:c.95G>T
ENST00000574799.5:n.1016G>T
NM_001243342.1:c.1479G>T NP_001230271.1:p.Arg493Ser
NM_017950.3:c.1479G>T NP_060420.2:p.Arg493Ser
XM_005257492.3:c.1479G>T XP_005257549.1:p.Arg493Ser
XM_011524963.1:c.1389G>T XP_011523265.1:p.Arg463Ser
XM_011524964.1:c.300G>T XP_011523266.1:p.Arg100Ser
XM_011524965.1:c.1479G>T XP_011523267.1:p.Arg493Ser
XR_934495.1:n.1510G>T
NM_001330508.1:c.1479G>T NP_001317437.1:p.Arg493Ser
XM_011524963.3:c.1389G>T XP_011523265.1:p.Arg463Ser
XM_011524964.3:c.300G>T XP_011523266.1:p.Arg100Ser
XM_011524965.3:c.1479G>T XP_011523267.1:p.Arg493Ser
XM_017024807.1:c.1479G>T XP_016880296.1:p.Arg493Ser
XM_024450821.1:c.1389G>T XP_024306589.1:p.Arg463Ser
XR_001752550.2:n.1510G>T
XR_934495.2:n.1510G>T
NM_017950.4:c.1479G>T MANE Select NP_060420.2:p.Arg493Ser
NM_001330508.2:c.1479G>T NP_001317437.1:p.Arg493Ser
NM_001243342.2:c.1479G>T NP_001230271.1:p.Arg493Ser