Canonical Allele Identifier: CA2739725351
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129080G>C , CM000682.2:g.46129080G>C GRCh38
NC_000020.10:g.44757719G>C , CM000682.1:g.44757719G>C GRCh37
NC_000020.9:g.44191126G>C NCBI36
NG_007279.1:g.15814G>C , LRG_40:g.15814G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.957G>C ENSP00000512096.1:n.957G>C
ENST00000695675.1:n.2750G>C
ENST00000372285.8:c.*40G>C MANE Select ENSP00000361359.3:n.*40G>C
ENST00000372276.7:c.*200G>C ENSP00000361350.3:n.*200G>C
ENST00000372285.7:c.*40G>C ENSP00000361359.3:n.*40G>C
ENST00000466205.5:c.776G>C
ENST00000489304.5:n.950G>C
ENST00000620709.4:c.*421G>C ENSP00000484074.1:n.*421G>C
NM_001250.5:c.*40G>C NP_001241.1:n.*40G>C
NM_001302753.1:c.*200G>C NP_001289682.1:n.*200G>C
NM_152854.3:c.*200G>C NP_690593.1:n.*200G>C
NR_126502.1:n.967G>C
XM_005260617.2:c.*40G>C XP_005260674.1:n.*40G>C
XM_005260619.2:c.*40G>C XP_005260676.1:n.*40G>C
NM_001322421.1:c.*40G>C NP_001309350.1:n.*40G>C
NM_001322422.1:c.*40G>C NP_001309351.1:n.*40G>C
NM_001362758.1:c.*200G>C NP_001349687.1:n.*200G>C
NR_136327.1:n.870G>C
XM_005260619.3:c.*40G>C XP_005260676.1:n.*40G>C
XM_017028135.1:c.909G>C XP_016883624.1:p.Gln303His
XM_017028136.1:c.807G>C XP_016883625.1:p.Gln269His
NM_001250.6:c.*40G>C MANE Select NP_001241.1:n.*40G>C
NM_001302753.2:c.*200G>C NP_001289682.1:n.*200G>C
NM_001322421.2:c.*40G>C NP_001309350.1:n.*40G>C
NM_001322422.2:c.*40G>C NP_001309351.1:n.*40G>C
NM_001362758.2:c.*200G>C NP_001349687.1:n.*200G>C
NM_152854.4:c.*200G>C NP_690593.1:n.*200G>C
NR_126502.2:n.907G>C
NR_136327.2:n.810G>C