Canonical Allele Identifier: CA409209449
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128207T>G , CM000682.2:g.46128207T>G GRCh38
NC_000020.10:g.44756846T>G , CM000682.1:g.44756846T>G GRCh37
NC_000020.9:g.44190253T>G NCBI36
NG_007279.1:g.14941T>G , LRG_40:g.14941T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.631T>G ENSP00000512095.1:n.631T>G
ENST00000489304.6:c.712T>G ENSP00000512096.1:n.712T>G
ENST00000695670.1:n.598T>G
ENST00000695671.1:c.669T>G ENSP00000512093.1:p.Leu223=
ENST00000695674.1:n.1108T>G
ENST00000695675.1:n.2505T>G
ENST00000372285.8:c.629T>G MANE Select ENSP00000361359.3:p.Leu210Trp
ENST00000372276.7:c.567T>G ENSP00000361350.3:p.Leu189=
ENST00000372285.7:c.629T>G ENSP00000361359.3:p.Leu210Trp
ENST00000466205.5:c.531T>G
ENST00000477696.5:n.602T>G
ENST00000489304.5:n.705T>G
ENST00000620709.4:c.*176T>G ENSP00000484074.1:n.*176T>G
NM_001250.5:c.629T>G NP_001241.1:p.Leu210Trp
NM_001302753.1:c.669T>G NP_001289682.1:p.Leu223=
NM_152854.3:c.567T>G NP_690593.1:p.Leu189=
NR_126502.1:n.722T>G
XM_005260617.2:c.629T>G XP_005260674.1:p.Leu210Trp
XM_005260619.2:c.473T>G XP_005260676.1:p.Leu158Trp
XR_936660.1:n.629T>G
NM_001322421.1:c.629T>G NP_001309350.1:p.Leu210Trp
NM_001322422.1:c.473T>G NP_001309351.1:p.Leu158Trp
NM_001362758.1:c.629T>G NP_001349687.1:p.Leu210Trp
NR_136327.1:n.625T>G
XM_005260619.3:c.473T>G XP_005260676.1:p.Leu158Trp
XM_017028135.1:c.669T>G XP_016883624.1:p.Leu223=
XM_017028136.1:c.567T>G XP_016883625.1:p.Leu189=
NM_001250.6:c.629T>G MANE Select NP_001241.1:p.Leu210Trp
NM_001302753.2:c.669T>G NP_001289682.1:p.Leu223=
NM_001322421.2:c.629T>G NP_001309350.1:p.Leu210Trp
NM_001322422.2:c.473T>G NP_001309351.1:p.Leu158Trp
NM_001362758.2:c.629T>G NP_001349687.1:p.Leu210Trp
NM_152854.4:c.567T>G NP_690593.1:p.Leu189=
NR_126502.2:n.662T>G
NR_136327.2:n.565T>G