Canonical Allele Identifier: CA510657870
Gene: CD40 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44757646A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129007A>G , CM000682.2:g.46129007A>G GRCh38
NC_000020.10:g.44757646A>G , CM000682.1:g.44757646A>G GRCh37
NC_000020.9:g.44191053A>G NCBI36
NG_007279.1:g.15741A>G , LRG_40:g.15741A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.884A>G ENSP00000512096.1:n.884A>G
ENST00000695675.1:n.2677A>G
ENST00000372285.8:c.801A>G MANE Select ENSP00000361359.3:p.Lys267=
ENST00000372276.7:c.*127A>G ENSP00000361350.3:n.*127A>G
ENST00000372285.7:c.801A>G ENSP00000361359.3:p.Lys267=
ENST00000466205.5:c.703A>G
ENST00000489304.5:n.877A>G
ENST00000620709.4:c.*348A>G ENSP00000484074.1:n.*348A>G
NM_001250.5:c.801A>G NP_001241.1:p.Lys267=
NM_001302753.1:c.*127A>G NP_001289682.1:n.*127A>G
NM_152854.3:c.*127A>G NP_690593.1:n.*127A>G
NR_126502.1:n.894A>G
XM_005260617.2:c.813A>G XP_005260674.1:p.Lys271=
XM_005260619.2:c.657A>G XP_005260676.1:p.Lys219=
XR_936660.1:n.801A>G
NM_001322421.1:c.813A>G NP_001309350.1:p.Lys271=
NM_001322422.1:c.645A>G NP_001309351.1:p.Lys215=
NM_001362758.1:c.*127A>G NP_001349687.1:n.*127A>G
NR_136327.1:n.797A>G
XM_005260619.3:c.657A>G XP_005260676.1:p.Lys219=
XM_017028135.1:c.836A>G XP_016883624.1:p.Lys279Arg
XM_017028136.1:c.734A>G XP_016883625.1:p.Lys245Arg
NM_001250.6:c.801A>G MANE Select NP_001241.1:p.Lys267=
NM_001302753.2:c.*127A>G NP_001289682.1:n.*127A>G
NM_001322421.2:c.813A>G NP_001309350.1:p.Lys271=
NM_001322422.2:c.645A>G NP_001309351.1:p.Lys215=
NM_001362758.2:c.*127A>G NP_001349687.1:n.*127A>G
NM_152854.4:c.*127A>G NP_690593.1:n.*127A>G
NR_126502.2:n.834A>G
NR_136327.2:n.737A>G