Canonical Allele Identifier: CA2816506594
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129212G>T , CM000682.2:g.46129212G>T GRCh38
NC_000020.10:g.44757851G>T , CM000682.1:g.44757851G>T GRCh37
NC_000020.9:g.44191258G>T NCBI36
NG_007279.1:g.15946G>T , LRG_40:g.15946G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.1089G>T ENSP00000512096.1:n.1089G>T
ENST00000695675.1:n.2882G>T
ENST00000372285.8:c.*172G>T MANE Select ENSP00000361359.3:n.*172G>T
ENST00000372276.7:c.*332G>T ENSP00000361350.3:n.*332G>T
ENST00000372285.7:c.*172G>T ENSP00000361359.3:n.*172G>T
ENST00000489304.5:n.1082G>T
ENST00000620709.4:c.*553G>T ENSP00000484074.1:n.*553G>T
NM_001250.5:c.*172G>T NP_001241.1:n.*172G>T
NM_001302753.1:c.*332G>T NP_001289682.1:n.*332G>T
NM_152854.3:c.*332G>T NP_690593.1:n.*332G>T
NR_126502.1:n.1099G>T
XM_005260617.2:c.*172G>T XP_005260674.1:n.*172G>T
XM_005260619.2:c.*172G>T XP_005260676.1:n.*172G>T
NM_001322421.1:c.*172G>T NP_001309350.1:n.*172G>T
NM_001322422.1:c.*172G>T NP_001309351.1:n.*172G>T
NM_001362758.1:c.*332G>T NP_001349687.1:n.*332G>T
NR_136327.1:n.1002G>T
XM_005260619.3:c.*172G>T XP_005260676.1:n.*172G>T
XM_017028135.1:c.*69G>T XP_016883624.1:n.*69G>T
XM_017028136.1:c.*69G>T XP_016883625.1:n.*69G>T
NM_001250.6:c.*172G>T MANE Select NP_001241.1:n.*172G>T
NM_001302753.2:c.*332G>T NP_001289682.1:n.*332G>T
NM_001322421.2:c.*172G>T NP_001309350.1:n.*172G>T
NM_001322422.2:c.*172G>T NP_001309351.1:n.*172G>T
NM_001362758.2:c.*332G>T NP_001349687.1:n.*332G>T
NM_152854.4:c.*332G>T NP_690593.1:n.*332G>T
NR_126502.2:n.1039G>T
NR_136327.2:n.942G>T