Canonical Allele Identifier: CA8813877
Gene: CCDC40 HGNC NCBI

Linked Data

ClinVar Variation Id: 260953
dbSNP Id: rs59978698

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80065575G>C , CM000679.2:g.80065575G>C GRCh38
NC_000017.10:g.78039374G>C , CM000679.1:g.78039374G>C GRCh37
NC_000017.9:g.75653969G>C NCBI36
NG_029761.1:g.33944G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.1531G>C MANE Select ENSP00000380679.4:p.Glu511Gln
ENST00000269318.9:c.1531G>C ENSP00000269318.5:p.Glu511Gln
ENST00000374876.4:c.1318-508G>C ENSP00000364010.4:n.1318-508G>C
ENST00000374877.7:c.1531G>C ENSP00000364011.3:p.Glu511Gln
ENST00000397545.8:c.1531G>C ENSP00000380679.4:p.Glu511Gln
ENST00000571028.1:c.147G>C
ENST00000574799.5:n.1068G>C
NM_001243342.1:c.1531G>C NP_001230271.1:p.Glu511Gln
NM_017950.3:c.1531G>C NP_060420.2:p.Glu511Gln
XM_005257492.3:c.1531G>C XP_005257549.1:p.Glu511Gln
XM_011524963.1:c.1441G>C XP_011523265.1:p.Glu481Gln
XM_011524964.1:c.352G>C XP_011523266.1:p.Glu118Gln
XM_011524965.1:c.1531G>C XP_011523267.1:p.Glu511Gln
XR_934495.1:n.1562G>C
NM_001330508.1:c.1531G>C NP_001317437.1:p.Glu511Gln
XM_011524963.3:c.1441G>C XP_011523265.1:p.Glu481Gln
XM_011524964.3:c.352G>C XP_011523266.1:p.Glu118Gln
XM_011524965.3:c.1531G>C XP_011523267.1:p.Glu511Gln
XM_017024807.1:c.1531G>C XP_016880296.1:p.Glu511Gln
XM_024450821.1:c.1441G>C XP_024306589.1:p.Glu481Gln
XR_001752550.2:n.1562G>C
XR_934495.2:n.1562G>C
NM_017950.4:c.1531G>C MANE Select NP_060420.2:p.Glu511Gln
NM_001330508.2:c.1531G>C NP_001317437.1:p.Glu511Gln
NM_001243342.2:c.1531G>C NP_001230271.1:p.Glu511Gln