Canonical Allele Identifier: CA2739725399
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129115G>C , CM000682.2:g.46129115G>C GRCh38
NC_000020.10:g.44757754G>C , CM000682.1:g.44757754G>C GRCh37
NC_000020.9:g.44191161G>C NCBI36
NG_007279.1:g.15849G>C , LRG_40:g.15849G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.992G>C ENSP00000512096.1:n.992G>C
ENST00000695675.1:n.2785G>C
ENST00000372285.8:c.*75G>C MANE Select ENSP00000361359.3:n.*75G>C
ENST00000372276.7:c.*235G>C ENSP00000361350.3:n.*235G>C
ENST00000372285.7:c.*75G>C ENSP00000361359.3:n.*75G>C
ENST00000466205.5:c.811G>C
ENST00000489304.5:n.985G>C
ENST00000620709.4:c.*456G>C ENSP00000484074.1:n.*456G>C
NM_001250.5:c.*75G>C NP_001241.1:n.*75G>C
NM_001302753.1:c.*235G>C NP_001289682.1:n.*235G>C
NM_152854.3:c.*235G>C NP_690593.1:n.*235G>C
NR_126502.1:n.1002G>C
XM_005260617.2:c.*75G>C XP_005260674.1:n.*75G>C
XM_005260619.2:c.*75G>C XP_005260676.1:n.*75G>C
NM_001322421.1:c.*75G>C NP_001309350.1:n.*75G>C
NM_001322422.1:c.*75G>C NP_001309351.1:n.*75G>C
NM_001362758.1:c.*235G>C NP_001349687.1:n.*235G>C
NR_136327.1:n.905G>C
XM_005260619.3:c.*75G>C XP_005260676.1:n.*75G>C
XM_017028135.1:c.944G>C XP_016883624.1:p.Cys315Ser
XM_017028136.1:c.842G>C XP_016883625.1:p.Cys281Ser
NM_001250.6:c.*75G>C MANE Select NP_001241.1:n.*75G>C
NM_001302753.2:c.*235G>C NP_001289682.1:n.*235G>C
NM_001322421.2:c.*75G>C NP_001309350.1:n.*75G>C
NM_001322422.2:c.*75G>C NP_001309351.1:n.*75G>C
NM_001362758.2:c.*235G>C NP_001349687.1:n.*235G>C
NM_152854.4:c.*235G>C NP_690593.1:n.*235G>C
NR_126502.2:n.942G>C
NR_136327.2:n.845G>C