Canonical Allele Identifier: CA409205694
Gene: CD40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46122740T>G , CM000682.2:g.46122740T>G GRCh38
NC_000020.10:g.44751379T>G , CM000682.1:g.44751379T>G GRCh37
NC_000020.9:g.44184786T>G NCBI36
NG_007279.1:g.9474T>G , LRG_40:g.9474T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.483T>G ENSP00000512095.1:n.483T>G
ENST00000489304.6:c.387T>G ENSP00000512096.1:p.Phe129Leu
ENST00000695669.1:n.460T>G
ENST00000695670.1:n.367T>G
ENST00000695671.1:c.387T>G ENSP00000512093.1:p.Phe129Leu
ENST00000695672.1:n.312T>G
ENST00000695673.1:n.252T>G
ENST00000372285.8:c.387T>G MANE Select ENSP00000361359.3:p.Phe129Leu
ENST00000372276.7:c.387T>G ENSP00000361350.3:p.Phe129Leu
ENST00000372285.7:c.387T>G ENSP00000361359.3:p.Phe129Leu
ENST00000461171.1:n.172T>G
ENST00000466205.5:c.383T>G
ENST00000477696.5:n.454T>G
ENST00000489304.5:n.380T>G
ENST00000620709.4:c.387T>G ENSP00000484074.1:p.Phe129Leu
NM_001250.5:c.387T>G NP_001241.1:p.Phe129Leu
NM_001302753.1:c.387T>G NP_001289682.1:p.Phe129Leu
NM_152854.3:c.387T>G NP_690593.1:p.Phe129Leu
NR_126502.1:n.477T>G
XM_005260617.2:c.387T>G XP_005260674.1:p.Phe129Leu
XM_005260619.2:c.387T>G XP_005260676.1:p.Phe129Leu
XM_011529109.1:c.387T>G XP_011527411.1:p.Phe129Leu
XR_936660.1:n.481T>G
NM_001322421.1:c.387T>G NP_001309350.1:p.Phe129Leu
NM_001322422.1:c.387T>G NP_001309351.1:p.Phe129Leu
NM_001362758.1:c.387T>G NP_001349687.1:p.Phe129Leu
NR_136327.1:n.477T>G
XM_005260619.3:c.387T>G XP_005260676.1:p.Phe129Leu
XM_011529109.2:c.387T>G XP_011527411.1:p.Phe129Leu
XM_017028135.1:c.387T>G XP_016883624.1:p.Phe129Leu
XM_017028136.1:c.387T>G XP_016883625.1:p.Phe129Leu
NM_001250.6:c.387T>G MANE Select NP_001241.1:p.Phe129Leu
NM_001302753.2:c.387T>G NP_001289682.1:p.Phe129Leu
NM_001322421.2:c.387T>G NP_001309350.1:p.Phe129Leu
NM_001322422.2:c.387T>G NP_001309351.1:p.Phe129Leu
NM_001362758.2:c.387T>G NP_001349687.1:p.Phe129Leu
NM_152854.4:c.387T>G NP_690593.1:p.Phe129Leu
NR_126502.2:n.417T>G
NR_136327.2:n.417T>G