Canonical Allele Identifier: CA409212423
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129029G>T , CM000682.2:g.46129029G>T GRCh38
NC_000020.10:g.44757668G>T , CM000682.1:g.44757668G>T GRCh37
NC_000020.9:g.44191075G>T NCBI36
NG_007279.1:g.15763G>T , LRG_40:g.15763G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.906G>T ENSP00000512096.1:n.906G>T
ENST00000695675.1:n.2699G>T
ENST00000372285.8:c.823G>T MANE Select ENSP00000361359.3:p.Glu275Ter
ENST00000372276.7:c.*149G>T ENSP00000361350.3:n.*149G>T
ENST00000372285.7:c.823G>T ENSP00000361359.3:p.Glu275Ter
ENST00000466205.5:c.725G>T
ENST00000489304.5:n.899G>T
ENST00000620709.4:c.*370G>T ENSP00000484074.1:n.*370G>T
NM_001250.5:c.823G>T NP_001241.1:p.Glu275Ter
NM_001302753.1:c.*149G>T NP_001289682.1:n.*149G>T
NM_152854.3:c.*149G>T NP_690593.1:n.*149G>T
NR_126502.1:n.916G>T
XM_005260617.2:c.835G>T XP_005260674.1:p.Glu279Ter
XM_005260619.2:c.679G>T XP_005260676.1:p.Glu227Ter
XR_936660.1:n.823G>T
NM_001322421.1:c.835G>T NP_001309350.1:p.Glu279Ter
NM_001322422.1:c.667G>T NP_001309351.1:p.Glu223Ter
NM_001362758.1:c.*149G>T NP_001349687.1:n.*149G>T
NR_136327.1:n.819G>T
XM_005260619.3:c.679G>T XP_005260676.1:p.Glu227Ter
XM_017028135.1:c.858G>T XP_016883624.1:p.Arg286Ser
XM_017028136.1:c.756G>T XP_016883625.1:p.Arg252Ser
NM_001250.6:c.823G>T MANE Select NP_001241.1:p.Glu275Ter
NM_001302753.2:c.*149G>T NP_001289682.1:n.*149G>T
NM_001322421.2:c.835G>T NP_001309350.1:p.Glu279Ter
NM_001322422.2:c.667G>T NP_001309351.1:p.Glu223Ter
NM_001362758.2:c.*149G>T NP_001349687.1:n.*149G>T
NM_152854.4:c.*149G>T NP_690593.1:n.*149G>T
NR_126502.2:n.856G>T
NR_136327.2:n.759G>T