Canonical Allele Identifier: CA315654753
Gene: CD40 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128885C>T , CM000682.2:g.46128885C>T GRCh38
NC_000020.10:g.44757524C>T , CM000682.1:g.44757524C>T GRCh37
NC_000020.9:g.44190931C>T NCBI36
NG_007279.1:g.15619C>T , LRG_40:g.15619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.681C>T ENSP00000512095.1:n.681C>T
ENST00000489304.6:c.762C>T ENSP00000512096.1:n.762C>T
ENST00000695675.1:n.2555C>T
ENST00000372285.8:c.679C>T MANE Select ENSP00000361359.3:p.Pro227Ser
ENST00000372276.7:c.*5C>T ENSP00000361350.3:n.*5C>T
ENST00000372285.7:c.679C>T ENSP00000361359.3:p.Pro227Ser
ENST00000466205.5:c.581C>T
ENST00000477696.5:n.652C>T
ENST00000489304.5:n.755C>T
ENST00000620709.4:c.*226C>T ENSP00000484074.1:n.*226C>T
NM_001250.5:c.679C>T NP_001241.1:p.Pro227Ser
NM_001302753.1:c.*5C>T NP_001289682.1:n.*5C>T
NM_152854.3:c.*5C>T NP_690593.1:n.*5C>T
NR_126502.1:n.772C>T
XM_005260617.2:c.691C>T XP_005260674.1:p.Pro231Ser
XM_005260619.2:c.535C>T XP_005260676.1:p.Pro179Ser
XR_936660.1:n.679C>T
NM_001322421.1:c.691C>T NP_001309350.1:p.Pro231Ser
NM_001322422.1:c.523C>T NP_001309351.1:p.Pro175Ser
NM_001362758.1:c.*5C>T NP_001349687.1:n.*5C>T
NR_136327.1:n.675C>T
XM_005260619.3:c.535C>T XP_005260676.1:p.Pro179Ser
XM_017028135.1:c.714C>T XP_016883624.1:p.Pro238=
XM_017028136.1:c.612C>T XP_016883625.1:p.Pro204=
NM_001250.6:c.679C>T MANE Select NP_001241.1:p.Pro227Ser
NM_001302753.2:c.*5C>T NP_001289682.1:n.*5C>T
NM_001322421.2:c.691C>T NP_001309350.1:p.Pro231Ser
NM_001322422.2:c.523C>T NP_001309351.1:p.Pro175Ser
NM_001362758.2:c.*5C>T NP_001349687.1:n.*5C>T
NM_152854.4:c.*5C>T NP_690593.1:n.*5C>T
NR_126502.2:n.712C>T
NR_136327.2:n.615C>T