Canonical Allele Identifier: CA2739725316
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129059G>T , CM000682.2:g.46129059G>T GRCh38
NC_000020.10:g.44757698G>T , CM000682.1:g.44757698G>T GRCh37
NC_000020.9:g.44191105G>T NCBI36
NG_007279.1:g.15793G>T , LRG_40:g.15793G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.936G>T ENSP00000512096.1:n.936G>T
ENST00000695675.1:n.2729G>T
ENST00000372285.8:c.*19G>T MANE Select ENSP00000361359.3:n.*19G>T
ENST00000372276.7:c.*179G>T ENSP00000361350.3:n.*179G>T
ENST00000372285.7:c.*19G>T ENSP00000361359.3:n.*19G>T
ENST00000466205.5:c.755G>T
ENST00000489304.5:n.929G>T
ENST00000620709.4:c.*400G>T ENSP00000484074.1:n.*400G>T
NM_001250.5:c.*19G>T NP_001241.1:n.*19G>T
NM_001302753.1:c.*179G>T NP_001289682.1:n.*179G>T
NM_152854.3:c.*179G>T NP_690593.1:n.*179G>T
NR_126502.1:n.946G>T
XM_005260617.2:c.*19G>T XP_005260674.1:n.*19G>T
XM_005260619.2:c.*19G>T XP_005260676.1:n.*19G>T
NM_001322421.1:c.*19G>T NP_001309350.1:n.*19G>T
NM_001322422.1:c.*19G>T NP_001309351.1:n.*19G>T
NM_001362758.1:c.*179G>T NP_001349687.1:n.*179G>T
NR_136327.1:n.849G>T
XM_005260619.3:c.*19G>T XP_005260676.1:n.*19G>T
XM_017028135.1:c.888G>T XP_016883624.1:p.Glu296Asp
XM_017028136.1:c.786G>T XP_016883625.1:p.Glu262Asp
NM_001250.6:c.*19G>T MANE Select NP_001241.1:n.*19G>T
NM_001302753.2:c.*179G>T NP_001289682.1:n.*179G>T
NM_001322421.2:c.*19G>T NP_001309350.1:n.*19G>T
NM_001322422.2:c.*19G>T NP_001309351.1:n.*19G>T
NM_001362758.2:c.*179G>T NP_001349687.1:n.*179G>T
NM_152854.4:c.*179G>T NP_690593.1:n.*179G>T
NR_126502.2:n.886G>T
NR_136327.2:n.789G>T