Canonical Allele Identifier: CA2576660577
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099831T>G , CM000679.2:g.80099831T>G GRCh38
NC_000017.10:g.78073630T>G , CM000679.1:g.78073630T>G GRCh37
NC_000017.9:g.75688225T>G NCBI36
NG_009822.1:g.3276T>G , LRG_673:g.3276T>G
NG_029761.1:g.68200T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000397545.9:c.*56T>G MANE Select ENSP00000380679.4:n.*56T>G
ENST00000397545.8:c.*56T>G ENSP00000380679.4:n.*56T>G
ENST00000574799.5:n.3022T>G
NM_017950.3:c.*56T>G NP_060420.2:n.*56T>G
XM_011524963.1:c.*56T>G XP_011523265.1:n.*56T>G
XM_011524964.1:c.*56T>G XP_011523266.1:n.*56T>G
XM_011524963.3:c.*56T>G XP_011523265.1:n.*56T>G
XM_011524964.3:c.*56T>G XP_011523266.1:n.*56T>G
XM_024450821.1:c.*56T>G XP_024306589.1:n.*56T>G
XR_934495.2:n.3603T>G
NM_017950.4:c.*56T>G MANE Select NP_060420.2:n.*56T>G