Canonical Allele Identifier: CA409209087
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128163G>T , CM000682.2:g.46128163G>T GRCh38
NC_000020.10:g.44756802G>T , CM000682.1:g.44756802G>T GRCh37
NC_000020.9:g.44190209G>T NCBI36
NG_007279.1:g.14897G>T , LRG_40:g.14897G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477696.6:c.587G>T ENSP00000512095.1:n.587G>T
ENST00000489304.6:c.668G>T ENSP00000512096.1:n.668G>T
ENST00000695670.1:n.554G>T
ENST00000695671.1:c.625G>T ENSP00000512093.1:p.Gly209Cys
ENST00000695674.1:n.1064G>T
ENST00000695675.1:n.2461G>T
ENST00000372285.8:c.585G>T MANE Select ENSP00000361359.3:p.Leu195=
ENST00000372276.7:c.523G>T ENSP00000361350.3:p.Gly175Cys
ENST00000372285.7:c.585G>T ENSP00000361359.3:p.Leu195=
ENST00000466205.5:c.487G>T
ENST00000477696.5:n.558G>T
ENST00000489304.5:n.661G>T
ENST00000620709.4:c.*132G>T ENSP00000484074.1:n.*132G>T
NM_001250.5:c.585G>T NP_001241.1:p.Leu195=
NM_001302753.1:c.625G>T NP_001289682.1:p.Gly209Cys
NM_152854.3:c.523G>T NP_690593.1:p.Gly175Cys
NR_126502.1:n.678G>T
XM_005260617.2:c.585G>T XP_005260674.1:p.Leu195=
XM_005260619.2:c.429G>T XP_005260676.1:p.Leu143=
XR_936660.1:n.585G>T
NM_001322421.1:c.585G>T NP_001309350.1:p.Leu195=
NM_001322422.1:c.429G>T NP_001309351.1:p.Leu143=
NM_001362758.1:c.585G>T NP_001349687.1:p.Leu195=
NR_136327.1:n.581G>T
XM_005260619.3:c.429G>T XP_005260676.1:p.Leu143=
XM_017028135.1:c.625G>T XP_016883624.1:p.Gly209Cys
XM_017028136.1:c.523G>T XP_016883625.1:p.Gly175Cys
NM_001250.6:c.585G>T MANE Select NP_001241.1:p.Leu195=
NM_001302753.2:c.625G>T NP_001289682.1:p.Gly209Cys
NM_001322421.2:c.585G>T NP_001309350.1:p.Leu195=
NM_001322422.2:c.429G>T NP_001309351.1:p.Leu143=
NM_001362758.2:c.585G>T NP_001349687.1:p.Leu195=
NM_152854.4:c.523G>T NP_690593.1:p.Gly175Cys
NR_126502.2:n.618G>T
NR_136327.2:n.521G>T