Canonical Allele Identifier: CA2739725382
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129102T>C , CM000682.2:g.46129102T>C GRCh38
NC_000020.10:g.44757741T>C , CM000682.1:g.44757741T>C GRCh37
NC_000020.9:g.44191148T>C NCBI36
NG_007279.1:g.15836T>C , LRG_40:g.15836T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.979T>C ENSP00000512096.1:n.979T>C
ENST00000695675.1:n.2772T>C
ENST00000372285.8:c.*62T>C MANE Select ENSP00000361359.3:n.*62T>C
ENST00000372276.7:c.*222T>C ENSP00000361350.3:n.*222T>C
ENST00000372285.7:c.*62T>C ENSP00000361359.3:n.*62T>C
ENST00000466205.5:c.798T>C
ENST00000489304.5:n.972T>C
ENST00000620709.4:c.*443T>C ENSP00000484074.1:n.*443T>C
NM_001250.5:c.*62T>C NP_001241.1:n.*62T>C
NM_001302753.1:c.*222T>C NP_001289682.1:n.*222T>C
NM_152854.3:c.*222T>C NP_690593.1:n.*222T>C
NR_126502.1:n.989T>C
XM_005260617.2:c.*62T>C XP_005260674.1:n.*62T>C
XM_005260619.2:c.*62T>C XP_005260676.1:n.*62T>C
NM_001322421.1:c.*62T>C NP_001309350.1:n.*62T>C
NM_001322422.1:c.*62T>C NP_001309351.1:n.*62T>C
NM_001362758.1:c.*222T>C NP_001349687.1:n.*222T>C
NR_136327.1:n.892T>C
XM_005260619.3:c.*62T>C XP_005260676.1:n.*62T>C
XM_017028135.1:c.931T>C XP_016883624.1:p.Cys311Arg
XM_017028136.1:c.829T>C XP_016883625.1:p.Cys277Arg
NM_001250.6:c.*62T>C MANE Select NP_001241.1:n.*62T>C
NM_001302753.2:c.*222T>C NP_001289682.1:n.*222T>C
NM_001322421.2:c.*62T>C NP_001309350.1:n.*62T>C
NM_001322422.2:c.*62T>C NP_001309351.1:n.*62T>C
NM_001362758.2:c.*222T>C NP_001349687.1:n.*222T>C
NM_152854.4:c.*222T>C NP_690593.1:n.*222T>C
NR_126502.2:n.929T>C
NR_136327.2:n.832T>C