Canonical Allele Identifier: CA9888445
Gene: CD40 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362871
ClinVar RCV Id: RCV001901965
dbSNP Id: rs537489349

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46122697C>T , CM000682.2:g.46122697C>T GRCh38
NC_000020.10:g.44751336C>T , CM000682.1:g.44751336C>T GRCh37
NC_000020.9:g.44184743C>T NCBI36
NG_007279.1:g.9431C>T , LRG_40:g.9431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.440C>T ENSP00000512095.1:n.440C>T
ENST00000489304.6:c.344C>T ENSP00000512096.1:p.Ala115Val
ENST00000695669.1:n.417C>T
ENST00000695670.1:n.324C>T
ENST00000695671.1:c.344C>T ENSP00000512093.1:p.Ala115Val
ENST00000695672.1:n.269C>T
ENST00000695673.1:n.209C>T
ENST00000372285.8:c.344C>T MANE Select ENSP00000361359.3:p.Ala115Val
ENST00000372276.7:c.344C>T ENSP00000361350.3:p.Ala115Val
ENST00000372285.7:c.344C>T ENSP00000361359.3:p.Ala115Val
ENST00000461171.1:n.129C>T
ENST00000466205.5:c.340C>T
ENST00000477696.5:n.411C>T
ENST00000489304.5:n.337C>T
ENST00000620709.4:c.344C>T ENSP00000484074.1:p.Ala115Val
NM_001250.5:c.344C>T NP_001241.1:p.Ala115Val
NM_001302753.1:c.344C>T NP_001289682.1:p.Ala115Val
NM_152854.3:c.344C>T NP_690593.1:p.Ala115Val
NR_126502.1:n.434C>T
XM_005260617.2:c.344C>T XP_005260674.1:p.Ala115Val
XM_005260619.2:c.344C>T XP_005260676.1:p.Ala115Val
XM_011529109.1:c.344C>T XP_011527411.1:p.Ala115Val
XR_936660.1:n.438C>T
NM_001322421.1:c.344C>T NP_001309350.1:p.Ala115Val
NM_001322422.1:c.344C>T NP_001309351.1:p.Ala115Val
NM_001362758.1:c.344C>T NP_001349687.1:p.Ala115Val
NR_136327.1:n.434C>T
XM_005260619.3:c.344C>T XP_005260676.1:p.Ala115Val
XM_011529109.2:c.344C>T XP_011527411.1:p.Ala115Val
XM_017028135.1:c.344C>T XP_016883624.1:p.Ala115Val
XM_017028136.1:c.344C>T XP_016883625.1:p.Ala115Val
NM_001250.6:c.344C>T MANE Select NP_001241.1:p.Ala115Val
NM_001302753.2:c.344C>T NP_001289682.1:p.Ala115Val
NM_001322421.2:c.344C>T NP_001309350.1:p.Ala115Val
NM_001322422.2:c.344C>T NP_001309351.1:p.Ala115Val
NM_001362758.2:c.344C>T NP_001349687.1:p.Ala115Val
NM_152854.4:c.344C>T NP_690593.1:p.Ala115Val
NR_126502.2:n.374C>T
NR_136327.2:n.374C>T