Canonical Allele Identifier: CA409212425

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757668G>A (hg19) ; chr20:g.46129029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129029G>A , CM000682.2:g.46129029G>A	GRCh38
NC_000020.10:g.44757668G>A , CM000682.1:g.44757668G>A	GRCh37
NC_000020.9:g.44191075G>A	NCBI36
NG_007279.1:g.15763G>A , LRG_40:g.15763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.906G>A	ENSP00000512096.1:n.906G>A
ENST00000695675.1:n.2699G>A
ENST00000372285.8:c.823G>A MANE Select	ENSP00000361359.3:p.Glu275Lys
ENST00000372276.7:c.*149G>A	ENSP00000361350.3:n.*149G>A
ENST00000372285.7:c.823G>A	ENSP00000361359.3:p.Glu275Lys
ENST00000466205.5:c.725G>A
ENST00000489304.5:n.899G>A
ENST00000620709.4:c.*370G>A	ENSP00000484074.1:n.*370G>A
NM_001250.5:c.823G>A	NP_001241.1:p.Glu275Lys
NM_001302753.1:c.*149G>A	NP_001289682.1:n.*149G>A
NM_152854.3:c.*149G>A	NP_690593.1:n.*149G>A
NR_126502.1:n.916G>A
XM_005260617.2:c.835G>A	XP_005260674.1:p.Glu279Lys
XM_005260619.2:c.679G>A	XP_005260676.1:p.Glu227Lys
XR_936660.1:n.823G>A
NM_001322421.1:c.835G>A	NP_001309350.1:p.Glu279Lys
NM_001322422.1:c.667G>A	NP_001309351.1:p.Glu223Lys
NM_001362758.1:c.*149G>A	NP_001349687.1:n.*149G>A
NR_136327.1:n.819G>A
XM_005260619.3:c.679G>A	XP_005260676.1:p.Glu227Lys
XM_017028135.1:c.858G>A	XP_016883624.1:p.Arg286=
XM_017028136.1:c.756G>A	XP_016883625.1:p.Arg252=
NM_001250.6:c.823G>A MANE Select	NP_001241.1:p.Glu275Lys
NM_001302753.2:c.*149G>A	NP_001289682.1:n.*149G>A
NM_001322421.2:c.835G>A	NP_001309350.1:p.Glu279Lys
NM_001322422.2:c.667G>A	NP_001309351.1:p.Glu223Lys
NM_001362758.2:c.*149G>A	NP_001349687.1:n.*149G>A
NM_152854.4:c.*149G>A	NP_690593.1:n.*149G>A
NR_126502.2:n.856G>A
NR_136327.2:n.759G>A