Canonical Allele Identifier: CA3227589893
Community Standard Title: NM_017950.4(CCDC40):c.677-192T=
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80048391T= , CM000679.2:g.80048391T= GRCh38
NC_000017.10:g.78022190T= , CM000679.1:g.78022190T= GRCh37
NC_000017.9:g.75636785T= NCBI36
NG_029761.1:g.16760T=

Transcript Alleles

HGVS Amino-acid Change
NM_017950.4:c.677-192T= MANE Select NP_060420.2:n.677-192T=
ENST00000397545.9:c.677-192T= MANE Select ENSP00000380679.4:n.677-192T=
NM_001243342.1:c.677-192T= NP_001230271.1:n.677-192T=
NM_001243342.2:c.677-192T= NP_001230271.1:n.677-192T=
NM_001330508.1:c.677-192T= NP_001317437.1:n.677-192T=
NM_001330508.2:c.677-192T= NP_001317437.1:n.677-192T=
NM_017950.3:c.677-192T= NP_060420.2:n.677-192T=
ENST00000269318.9:c.677-192T= ENSP00000269318.5:n.677-192T=
ENST00000374876.4:c.677-192T= ENSP00000364010.4:n.677-192T=
ENST00000374877.7:c.677-192T= ENSP00000364011.3:n.677-192T=
ENST00000397545.8:c.677-192T= ENSP00000380679.4:n.677-192T=
ENST00000573474.5:c.131-192T=
ENST00000574799.5:n.22T=
XM_005257492.3:c.677-192T= XP_005257549.1:n.677-192T=
XM_011524963.1:c.587-192T= XP_011523265.1:n.587-192T=
XM_011524963.3:c.587-192T= XP_011523265.1:n.587-192T=
XM_011524965.1:c.677-192T= XP_011523267.1:n.677-192T=
XM_011524965.3:c.677-192T= XP_011523267.1:n.677-192T=
XM_017024807.1:c.677-192T= XP_016880296.1:n.677-192T=
XM_024450821.1:c.587-192T= XP_024306589.1:n.587-192T=
XR_001752550.2:n.708-192T=
XR_934495.1:n.708-192T=
XR_934495.2:n.708-192T=