Canonical Allele Identifier: CA2653133993
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129103G>T , CM000682.2:g.46129103G>T GRCh38
NC_000020.10:g.44757742G>T , CM000682.1:g.44757742G>T GRCh37
NC_000020.9:g.44191149G>T NCBI36
NG_007279.1:g.15837G>T , LRG_40:g.15837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.980G>T ENSP00000512096.1:n.980G>T
ENST00000695675.1:n.2773G>T
ENST00000372285.8:c.*63G>T MANE Select ENSP00000361359.3:n.*63G>T
ENST00000372276.7:c.*223G>T ENSP00000361350.3:n.*223G>T
ENST00000372285.7:c.*63G>T ENSP00000361359.3:n.*63G>T
ENST00000466205.5:c.799G>T
ENST00000489304.5:n.973G>T
ENST00000620709.4:c.*444G>T ENSP00000484074.1:n.*444G>T
NM_001250.5:c.*63G>T NP_001241.1:n.*63G>T
NM_001302753.1:c.*223G>T NP_001289682.1:n.*223G>T
NM_152854.3:c.*223G>T NP_690593.1:n.*223G>T
NR_126502.1:n.990G>T
XM_005260617.2:c.*63G>T XP_005260674.1:n.*63G>T
XM_005260619.2:c.*63G>T XP_005260676.1:n.*63G>T
NM_001322421.1:c.*63G>T NP_001309350.1:n.*63G>T
NM_001322422.1:c.*63G>T NP_001309351.1:n.*63G>T
NM_001362758.1:c.*223G>T NP_001349687.1:n.*223G>T
NR_136327.1:n.893G>T
XM_005260619.3:c.*63G>T XP_005260676.1:n.*63G>T
XM_017028135.1:c.932G>T XP_016883624.1:p.Cys311Phe
XM_017028136.1:c.830G>T XP_016883625.1:p.Cys277Phe
NM_001250.6:c.*63G>T MANE Select NP_001241.1:n.*63G>T
NM_001302753.2:c.*223G>T NP_001289682.1:n.*223G>T
NM_001322421.2:c.*63G>T NP_001309350.1:n.*63G>T
NM_001322422.2:c.*63G>T NP_001309351.1:n.*63G>T
NM_001362758.2:c.*223G>T NP_001349687.1:n.*223G>T
NM_152854.4:c.*223G>T NP_690593.1:n.*223G>T
NR_126502.2:n.930G>T
NR_136327.2:n.833G>T