Canonical Allele Identifier: CA2739725388
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129107C>G , CM000682.2:g.46129107C>G GRCh38
NC_000020.10:g.44757746C>G , CM000682.1:g.44757746C>G GRCh37
NC_000020.9:g.44191153C>G NCBI36
NG_007279.1:g.15841C>G , LRG_40:g.15841C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.984C>G ENSP00000512096.1:n.984C>G
ENST00000695675.1:n.2777C>G
ENST00000372285.8:c.*67C>G MANE Select ENSP00000361359.3:n.*67C>G
ENST00000372276.7:c.*227C>G ENSP00000361350.3:n.*227C>G
ENST00000372285.7:c.*67C>G ENSP00000361359.3:n.*67C>G
ENST00000466205.5:c.803C>G
ENST00000489304.5:n.977C>G
ENST00000620709.4:c.*448C>G ENSP00000484074.1:n.*448C>G
NM_001250.5:c.*67C>G NP_001241.1:n.*67C>G
NM_001302753.1:c.*227C>G NP_001289682.1:n.*227C>G
NM_152854.3:c.*227C>G NP_690593.1:n.*227C>G
NR_126502.1:n.994C>G
XM_005260617.2:c.*67C>G XP_005260674.1:n.*67C>G
XM_005260619.2:c.*67C>G XP_005260676.1:n.*67C>G
NM_001322421.1:c.*67C>G NP_001309350.1:n.*67C>G
NM_001322422.1:c.*67C>G NP_001309351.1:n.*67C>G
NM_001362758.1:c.*227C>G NP_001349687.1:n.*227C>G
NR_136327.1:n.897C>G
XM_005260619.3:c.*67C>G XP_005260676.1:n.*67C>G
XM_017028135.1:c.936C>G XP_016883624.1:p.Cys312Trp
XM_017028136.1:c.834C>G XP_016883625.1:p.Cys278Trp
NM_001250.6:c.*67C>G MANE Select NP_001241.1:n.*67C>G
NM_001302753.2:c.*227C>G NP_001289682.1:n.*227C>G
NM_001322421.2:c.*67C>G NP_001309350.1:n.*67C>G
NM_001322422.2:c.*67C>G NP_001309351.1:n.*67C>G
NM_001362758.2:c.*227C>G NP_001349687.1:n.*227C>G
NM_152854.4:c.*227C>G NP_690593.1:n.*227C>G
NR_126502.2:n.934C>G
NR_136327.2:n.837C>G