Canonical Allele Identifier: CA409212311

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757652T>A (hg19) ; chr20:g.46129013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129013T>A , CM000682.2:g.46129013T>A	GRCh38
NC_000020.10:g.44757652T>A , CM000682.1:g.44757652T>A	GRCh37
NC_000020.9:g.44191059T>A	NCBI36
NG_007279.1:g.15747T>A , LRG_40:g.15747T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.890T>A	ENSP00000512096.1:n.890T>A
ENST00000695675.1:n.2683T>A
ENST00000372285.8:c.807T>A MANE Select	ENSP00000361359.3:p.Ser269Arg
ENST00000372276.7:c.*133T>A	ENSP00000361350.3:n.*133T>A
ENST00000372285.7:c.807T>A	ENSP00000361359.3:p.Ser269Arg
ENST00000466205.5:c.709T>A
ENST00000489304.5:n.883T>A
ENST00000620709.4:c.*354T>A	ENSP00000484074.1:n.*354T>A
NM_001250.5:c.807T>A	NP_001241.1:p.Ser269Arg
NM_001302753.1:c.*133T>A	NP_001289682.1:n.*133T>A
NM_152854.3:c.*133T>A	NP_690593.1:n.*133T>A
NR_126502.1:n.900T>A
XM_005260617.2:c.819T>A	XP_005260674.1:p.Ser273Arg
XM_005260619.2:c.663T>A	XP_005260676.1:p.Ser221Arg
XR_936660.1:n.807T>A
NM_001322421.1:c.819T>A	NP_001309350.1:p.Ser273Arg
NM_001322422.1:c.651T>A	NP_001309351.1:p.Ser217Arg
NM_001362758.1:c.*133T>A	NP_001349687.1:n.*133T>A
NR_136327.1:n.803T>A
XM_005260619.3:c.663T>A	XP_005260676.1:p.Ser221Arg
XM_017028135.1:c.842T>A	XP_016883624.1:p.Val281Asp
XM_017028136.1:c.740T>A	XP_016883625.1:p.Val247Asp
NM_001250.6:c.807T>A MANE Select	NP_001241.1:p.Ser269Arg
NM_001302753.2:c.*133T>A	NP_001289682.1:n.*133T>A
NM_001322421.2:c.819T>A	NP_001309350.1:p.Ser273Arg
NM_001322422.2:c.651T>A	NP_001309351.1:p.Ser217Arg
NM_001362758.2:c.*133T>A	NP_001349687.1:n.*133T>A
NM_152854.4:c.*133T>A	NP_690593.1:n.*133T>A
NR_126502.2:n.840T>A
NR_136327.2:n.743T>A