Canonical Allele Identifier: CA409212187
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128996G>A , CM000682.2:g.46128996G>A GRCh38
NC_000020.10:g.44757635G>A , CM000682.1:g.44757635G>A GRCh37
NC_000020.9:g.44191042G>A NCBI36
NG_007279.1:g.15730G>A , LRG_40:g.15730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.792G>A ENSP00000512095.1:n.792G>A
ENST00000489304.6:c.873G>A ENSP00000512096.1:n.873G>A
ENST00000695675.1:n.2666G>A
ENST00000372285.8:c.790G>A MANE Select ENSP00000361359.3:p.Glu264Lys
ENST00000372276.7:c.*116G>A ENSP00000361350.3:n.*116G>A
ENST00000372285.7:c.790G>A ENSP00000361359.3:p.Glu264Lys
ENST00000466205.5:c.692G>A
ENST00000477696.5:n.763G>A
ENST00000489304.5:n.866G>A
ENST00000620709.4:c.*337G>A ENSP00000484074.1:n.*337G>A
NM_001250.5:c.790G>A NP_001241.1:p.Glu264Lys
NM_001302753.1:c.*116G>A NP_001289682.1:n.*116G>A
NM_152854.3:c.*116G>A NP_690593.1:n.*116G>A
NR_126502.1:n.883G>A
XM_005260617.2:c.802G>A XP_005260674.1:p.Glu268Lys
XM_005260619.2:c.646G>A XP_005260676.1:p.Glu216Lys
XR_936660.1:n.790G>A
NM_001322421.1:c.802G>A NP_001309350.1:p.Glu268Lys
NM_001322422.1:c.634G>A NP_001309351.1:p.Glu212Lys
NM_001362758.1:c.*116G>A NP_001349687.1:n.*116G>A
NR_136327.1:n.786G>A
XM_005260619.3:c.646G>A XP_005260676.1:p.Glu216Lys
XM_017028135.1:c.825G>A XP_016883624.1:p.Arg275=
XM_017028136.1:c.723G>A XP_016883625.1:p.Arg241=
NM_001250.6:c.790G>A MANE Select NP_001241.1:p.Glu264Lys
NM_001302753.2:c.*116G>A NP_001289682.1:n.*116G>A
NM_001322421.2:c.802G>A NP_001309350.1:p.Glu268Lys
NM_001322422.2:c.634G>A NP_001309351.1:p.Glu212Lys
NM_001362758.2:c.*116G>A NP_001349687.1:n.*116G>A
NM_152854.4:c.*116G>A NP_690593.1:n.*116G>A
NR_126502.2:n.823G>A
NR_136327.2:n.726G>A