Canonical Allele Identifier: CA409211806

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757570T>A (hg19) ; chr20:g.46128931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128931T>A , CM000682.2:g.46128931T>A	GRCh38
NC_000020.10:g.44757570T>A , CM000682.1:g.44757570T>A	GRCh37
NC_000020.9:g.44190977T>A	NCBI36
NG_007279.1:g.15665T>A , LRG_40:g.15665T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.727T>A	ENSP00000512095.1:n.727T>A
ENST00000489304.6:c.808T>A	ENSP00000512096.1:n.808T>A
ENST00000695675.1:n.2601T>A
ENST00000372285.8:c.725T>A MANE Select	ENSP00000361359.3:p.Leu242His
ENST00000372276.7:c.*51T>A	ENSP00000361350.3:n.*51T>A
ENST00000372285.7:c.725T>A	ENSP00000361359.3:p.Leu242His
ENST00000466205.5:c.627T>A
ENST00000477696.5:n.698T>A
ENST00000489304.5:n.801T>A
ENST00000620709.4:c.*272T>A	ENSP00000484074.1:n.*272T>A
NM_001250.5:c.725T>A	NP_001241.1:p.Leu242His
NM_001302753.1:c.*51T>A	NP_001289682.1:n.*51T>A
NM_152854.3:c.*51T>A	NP_690593.1:n.*51T>A
NR_126502.1:n.818T>A
XM_005260617.2:c.737T>A	XP_005260674.1:p.Leu246His
XM_005260619.2:c.581T>A	XP_005260676.1:p.Leu194His
XR_936660.1:n.725T>A
NM_001322421.1:c.737T>A	NP_001309350.1:p.Leu246His
NM_001322422.1:c.569T>A	NP_001309351.1:p.Leu190His
NM_001362758.1:c.*51T>A	NP_001349687.1:n.*51T>A
NR_136327.1:n.721T>A
XM_005260619.3:c.581T>A	XP_005260676.1:p.Leu194His
XM_017028135.1:c.760T>A	XP_016883624.1:p.Phe254Ile
XM_017028136.1:c.658T>A	XP_016883625.1:p.Phe220Ile
NM_001250.6:c.725T>A MANE Select	NP_001241.1:p.Leu242His
NM_001302753.2:c.*51T>A	NP_001289682.1:n.*51T>A
NM_001322421.2:c.737T>A	NP_001309350.1:p.Leu246His
NM_001322422.2:c.569T>A	NP_001309351.1:p.Leu190His
NM_001362758.2:c.*51T>A	NP_001349687.1:n.*51T>A
NM_152854.4:c.*51T>A	NP_690593.1:n.*51T>A
NR_126502.2:n.758T>A
NR_136327.2:n.661T>A