Canonical Allele Identifier: CA409209512
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128213T>A , CM000682.2:g.46128213T>A GRCh38
NC_000020.10:g.44756852T>A , CM000682.1:g.44756852T>A GRCh37
NC_000020.9:g.44190259T>A NCBI36
NG_007279.1:g.14947T>A , LRG_40:g.14947T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.637T>A ENSP00000512095.1:n.637T>A
ENST00000489304.6:c.718T>A ENSP00000512096.1:n.718T>A
ENST00000695670.1:n.604T>A
ENST00000695671.1:c.675T>A ENSP00000512093.1:p.Ala225=
ENST00000695674.1:n.1114T>A
ENST00000695675.1:n.2511T>A
ENST00000372285.8:c.635T>A MANE Select ENSP00000361359.3:p.Leu212Gln
ENST00000372276.7:c.573T>A ENSP00000361350.3:p.Ala191=
ENST00000372285.7:c.635T>A ENSP00000361359.3:p.Leu212Gln
ENST00000466205.5:c.537T>A
ENST00000477696.5:n.608T>A
ENST00000489304.5:n.711T>A
ENST00000620709.4:c.*182T>A ENSP00000484074.1:n.*182T>A
NM_001250.5:c.635T>A NP_001241.1:p.Leu212Gln
NM_001302753.1:c.675T>A NP_001289682.1:p.Ala225=
NM_152854.3:c.573T>A NP_690593.1:p.Ala191=
NR_126502.1:n.728T>A
XM_005260617.2:c.635T>A XP_005260674.1:p.Leu212Gln
XM_005260619.2:c.479T>A XP_005260676.1:p.Leu160Gln
XR_936660.1:n.635T>A
NM_001322421.1:c.635T>A NP_001309350.1:p.Leu212Gln
NM_001322422.1:c.479T>A NP_001309351.1:p.Leu160Gln
NM_001362758.1:c.635T>A NP_001349687.1:p.Leu212Gln
NR_136327.1:n.631T>A
XM_005260619.3:c.479T>A XP_005260676.1:p.Leu160Gln
XM_017028135.1:c.675T>A XP_016883624.1:p.Ala225=
XM_017028136.1:c.573T>A XP_016883625.1:p.Ala191=
NM_001250.6:c.635T>A MANE Select NP_001241.1:p.Leu212Gln
NM_001302753.2:c.675T>A NP_001289682.1:p.Ala225=
NM_001322421.2:c.635T>A NP_001309350.1:p.Leu212Gln
NM_001322422.2:c.479T>A NP_001309351.1:p.Leu160Gln
NM_001362758.2:c.635T>A NP_001349687.1:p.Leu212Gln
NM_152854.4:c.573T>A NP_690593.1:p.Ala191=
NR_126502.2:n.668T>A
NR_136327.2:n.571T>A