Canonical Allele Identifier: CA409209072

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44756800C>A (hg19) ; chr20:g.46128161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128161C>A , CM000682.2:g.46128161C>A	GRCh38
NC_000020.10:g.44756800C>A , CM000682.1:g.44756800C>A	GRCh37
NC_000020.9:g.44190207C>A	NCBI36
NG_007279.1:g.14895C>A , LRG_40:g.14895C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.585C>A	ENSP00000512095.1:n.585C>A
ENST00000489304.6:c.666C>A	ENSP00000512096.1:n.666C>A
ENST00000695670.1:n.552C>A
ENST00000695671.1:c.623C>A	ENSP00000512093.1:p.Pro208His
ENST00000695674.1:n.1062C>A
ENST00000695675.1:n.2459C>A
ENST00000372285.8:c.583C>A MANE Select	ENSP00000361359.3:p.Leu195Met
ENST00000372276.7:c.521C>A	ENSP00000361350.3:p.Pro174His
ENST00000372285.7:c.583C>A	ENSP00000361359.3:p.Leu195Met
ENST00000466205.5:c.485C>A
ENST00000477696.5:n.556C>A
ENST00000489304.5:n.659C>A
ENST00000620709.4:c.*130C>A	ENSP00000484074.1:n.*130C>A
NM_001250.5:c.583C>A	NP_001241.1:p.Leu195Met
NM_001302753.1:c.623C>A	NP_001289682.1:p.Pro208His
NM_152854.3:c.521C>A	NP_690593.1:p.Pro174His
NR_126502.1:n.676C>A
XM_005260617.2:c.583C>A	XP_005260674.1:p.Leu195Met
XM_005260619.2:c.427C>A	XP_005260676.1:p.Leu143Met
XR_936660.1:n.583C>A
NM_001322421.1:c.583C>A	NP_001309350.1:p.Leu195Met
NM_001322422.1:c.427C>A	NP_001309351.1:p.Leu143Met
NM_001362758.1:c.583C>A	NP_001349687.1:p.Leu195Met
NR_136327.1:n.579C>A
XM_005260619.3:c.427C>A	XP_005260676.1:p.Leu143Met
XM_017028135.1:c.623C>A	XP_016883624.1:p.Pro208His
XM_017028136.1:c.521C>A	XP_016883625.1:p.Pro174His
NM_001250.6:c.583C>A MANE Select	NP_001241.1:p.Leu195Met
NM_001302753.2:c.623C>A	NP_001289682.1:p.Pro208His
NM_001322421.2:c.583C>A	NP_001309350.1:p.Leu195Met
NM_001322422.2:c.427C>A	NP_001309351.1:p.Leu143Met
NM_001362758.2:c.583C>A	NP_001349687.1:p.Leu195Met
NM_152854.4:c.521C>A	NP_690593.1:p.Pro174His
NR_126502.2:n.616C>A
NR_136327.2:n.519C>A