Canonical Allele Identifier: CA2640285678
Community Standard Title: NM_017950.4(CCDC40):c.677-190C>A
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80048393C>A , CM000679.2:g.80048393C>A GRCh38
NC_000017.10:g.78022192C>A , CM000679.1:g.78022192C>A GRCh37
NC_000017.9:g.75636787C>A NCBI36
NG_029761.1:g.16762C>A

Transcript Alleles

HGVS Amino-acid Change
NM_017950.4:c.677-190C>A MANE Select NP_060420.2:n.677-190C>A
ENST00000397545.9:c.677-190C>A MANE Select ENSP00000380679.4:n.677-190C>A
NM_001243342.1:c.677-190C>A NP_001230271.1:n.677-190C>A
NM_001243342.2:c.677-190C>A NP_001230271.1:n.677-190C>A
NM_001330508.1:c.677-190C>A NP_001317437.1:n.677-190C>A
NM_001330508.2:c.677-190C>A NP_001317437.1:n.677-190C>A
NM_017950.3:c.677-190C>A NP_060420.2:n.677-190C>A
ENST00000269318.9:c.677-190C>A ENSP00000269318.5:n.677-190C>A
ENST00000374876.4:c.677-190C>A ENSP00000364010.4:n.677-190C>A
ENST00000374877.7:c.677-190C>A ENSP00000364011.3:n.677-190C>A
ENST00000397545.8:c.677-190C>A ENSP00000380679.4:n.677-190C>A
ENST00000573474.5:c.131-190C>A
ENST00000574799.5:n.24C>A
XM_005257492.3:c.677-190C>A XP_005257549.1:n.677-190C>A
XM_011524963.1:c.587-190C>A XP_011523265.1:n.587-190C>A
XM_011524963.3:c.587-190C>A XP_011523265.1:n.587-190C>A
XM_011524965.1:c.677-190C>A XP_011523267.1:n.677-190C>A
XM_011524965.3:c.677-190C>A XP_011523267.1:n.677-190C>A
XM_017024807.1:c.677-190C>A XP_016880296.1:n.677-190C>A
XM_024450821.1:c.587-190C>A XP_024306589.1:n.587-190C>A
XR_001752550.2:n.708-190C>A
XR_934495.1:n.708-190C>A
XR_934495.2:n.708-190C>A