Canonical Allele Identifier: CA409209565
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128218T>A , CM000682.2:g.46128218T>A GRCh38
NC_000020.10:g.44756857T>A , CM000682.1:g.44756857T>A GRCh37
NC_000020.9:g.44190264T>A NCBI36
NG_007279.1:g.14952T>A , LRG_40:g.14952T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.642T>A ENSP00000512095.1:n.642T>A
ENST00000489304.6:c.723T>A ENSP00000512096.1:n.723T>A
ENST00000695670.1:n.609T>A
ENST00000695671.1:c.680T>A ENSP00000512093.1:p.Leu227His
ENST00000695674.1:n.1119T>A
ENST00000695675.1:n.2516T>A
ENST00000372285.8:c.640T>A MANE Select ENSP00000361359.3:p.Phe214Ile
ENST00000372276.7:c.578T>A ENSP00000361350.3:p.Leu193His
ENST00000372285.7:c.640T>A ENSP00000361359.3:p.Phe214Ile
ENST00000466205.5:c.542T>A
ENST00000477696.5:n.613T>A
ENST00000489304.5:n.716T>A
ENST00000620709.4:c.*187T>A ENSP00000484074.1:n.*187T>A
NM_001250.5:c.640T>A NP_001241.1:p.Phe214Ile
NM_001302753.1:c.680T>A NP_001289682.1:p.Leu227His
NM_152854.3:c.578T>A NP_690593.1:p.Leu193His
NR_126502.1:n.733T>A
XM_005260617.2:c.640T>A XP_005260674.1:p.Phe214Ile
XM_005260619.2:c.484T>A XP_005260676.1:p.Phe162Ile
XR_936660.1:n.640T>A
NM_001322421.1:c.640T>A NP_001309350.1:p.Phe214Ile
NM_001322422.1:c.484T>A NP_001309351.1:p.Phe162Ile
NM_001362758.1:c.640T>A NP_001349687.1:p.Phe214Ile
NR_136327.1:n.636T>A
XM_005260619.3:c.484T>A XP_005260676.1:p.Phe162Ile
XM_017028135.1:c.680T>A XP_016883624.1:p.Leu227His
XM_017028136.1:c.578T>A XP_016883625.1:p.Leu193His
NM_001250.6:c.640T>A MANE Select NP_001241.1:p.Phe214Ile
NM_001302753.2:c.680T>A NP_001289682.1:p.Leu227His
NM_001322421.2:c.640T>A NP_001309350.1:p.Phe214Ile
NM_001322422.2:c.484T>A NP_001309351.1:p.Phe162Ile
NM_001362758.2:c.640T>A NP_001349687.1:p.Phe214Ile
NM_152854.4:c.578T>A NP_690593.1:p.Leu193His
NR_126502.2:n.673T>A
NR_136327.2:n.576T>A