Canonical Allele Identifier: CA409209637
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128223C>A , CM000682.2:g.46128223C>A GRCh38
NC_000020.10:g.44756862C>A , CM000682.1:g.44756862C>A GRCh37
NC_000020.9:g.44190269C>A NCBI36
NG_007279.1:g.14957C>A , LRG_40:g.14957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.647C>A ENSP00000512095.1:n.647C>A
ENST00000489304.6:c.728C>A ENSP00000512096.1:n.728C>A
ENST00000695670.1:n.614C>A
ENST00000695671.1:c.685C>A ENSP00000512093.1:p.Gln229Lys
ENST00000695674.1:n.1124C>A
ENST00000695675.1:n.2521C>A
ENST00000372285.8:c.645C>A MANE Select ENSP00000361359.3:p.Ile215=
ENST00000372276.7:c.583C>A ENSP00000361350.3:p.Gln195Lys
ENST00000372285.7:c.645C>A ENSP00000361359.3:p.Ile215=
ENST00000466205.5:c.547C>A
ENST00000477696.5:n.618C>A
ENST00000489304.5:n.721C>A
ENST00000620709.4:c.*192C>A ENSP00000484074.1:n.*192C>A
NM_001250.5:c.645C>A NP_001241.1:p.Ile215=
NM_001302753.1:c.685C>A NP_001289682.1:p.Gln229Lys
NM_152854.3:c.583C>A NP_690593.1:p.Gln195Lys
NR_126502.1:n.738C>A
XM_005260617.2:c.645C>A XP_005260674.1:p.Ile215=
XM_005260619.2:c.489C>A XP_005260676.1:p.Ile163=
XR_936660.1:n.645C>A
NM_001322421.1:c.645C>A NP_001309350.1:p.Ile215=
NM_001322422.1:c.489C>A NP_001309351.1:p.Ile163=
NM_001362758.1:c.645C>A NP_001349687.1:p.Ile215=
NR_136327.1:n.641C>A
XM_005260619.3:c.489C>A XP_005260676.1:p.Ile163=
XM_017028135.1:c.685C>A XP_016883624.1:p.Gln229Lys
XM_017028136.1:c.583C>A XP_016883625.1:p.Gln195Lys
NM_001250.6:c.645C>A MANE Select NP_001241.1:p.Ile215=
NM_001302753.2:c.685C>A NP_001289682.1:p.Gln229Lys
NM_001322421.2:c.645C>A NP_001309350.1:p.Ile215=
NM_001322422.2:c.489C>A NP_001309351.1:p.Ile163=
NM_001362758.2:c.645C>A NP_001349687.1:p.Ile215=
NM_152854.4:c.583C>A NP_690593.1:p.Gln195Lys
NR_126502.2:n.678C>A
NR_136327.2:n.581C>A