Canonical Allele Identifier: CA510657763
Gene: CD40 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44757532C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128893C>T , CM000682.2:g.46128893C>T GRCh38
NC_000020.10:g.44757532C>T , CM000682.1:g.44757532C>T GRCh37
NC_000020.9:g.44190939C>T NCBI36
NG_007279.1:g.15627C>T , LRG_40:g.15627C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477696.6:c.689C>T ENSP00000512095.1:n.689C>T
ENST00000489304.6:c.770C>T ENSP00000512096.1:n.770C>T
ENST00000695675.1:n.2563C>T
ENST00000372285.8:c.687C>T MANE Select ENSP00000361359.3:p.Pro229=
ENST00000372276.7:c.*13C>T ENSP00000361350.3:n.*13C>T
ENST00000372285.7:c.687C>T ENSP00000361359.3:p.Pro229=
ENST00000466205.5:c.589C>T
ENST00000477696.5:n.660C>T
ENST00000489304.5:n.763C>T
ENST00000620709.4:c.*234C>T ENSP00000484074.1:n.*234C>T
NM_001250.5:c.687C>T NP_001241.1:p.Pro229=
NM_001302753.1:c.*13C>T NP_001289682.1:n.*13C>T
NM_152854.3:c.*13C>T NP_690593.1:n.*13C>T
NR_126502.1:n.780C>T
XM_005260617.2:c.699C>T XP_005260674.1:p.Pro233=
XM_005260619.2:c.543C>T XP_005260676.1:p.Pro181=
XR_936660.1:n.687C>T
NM_001322421.1:c.699C>T NP_001309350.1:p.Pro233=
NM_001322422.1:c.531C>T NP_001309351.1:p.Pro177=
NM_001362758.1:c.*13C>T NP_001349687.1:n.*13C>T
NR_136327.1:n.683C>T
XM_005260619.3:c.543C>T XP_005260676.1:p.Pro181=
XM_017028135.1:c.722C>T XP_016883624.1:p.Pro241Leu
XM_017028136.1:c.620C>T XP_016883625.1:p.Pro207Leu
NM_001250.6:c.687C>T MANE Select NP_001241.1:p.Pro229=
NM_001302753.2:c.*13C>T NP_001289682.1:n.*13C>T
NM_001322421.2:c.699C>T NP_001309350.1:p.Pro233=
NM_001322422.2:c.531C>T NP_001309351.1:p.Pro177=
NM_001362758.2:c.*13C>T NP_001349687.1:n.*13C>T
NM_152854.4:c.*13C>T NP_690593.1:n.*13C>T
NR_126502.2:n.720C>T
NR_136327.2:n.623C>T