Canonical Allele Identifier: CA510657871

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757649G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129010G>A , CM000682.2:g.46129010G>A	GRCh38
NC_000020.10:g.44757649G>A , CM000682.1:g.44757649G>A	GRCh37
NC_000020.9:g.44191056G>A	NCBI36
NG_007279.1:g.15744G>A , LRG_40:g.15744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.887G>A	ENSP00000512096.1:n.887G>A
ENST00000695675.1:n.2680G>A
ENST00000372285.8:c.804G>A MANE Select	ENSP00000361359.3:p.Glu268=
ENST00000372276.7:c.*130G>A	ENSP00000361350.3:n.*130G>A
ENST00000372285.7:c.804G>A	ENSP00000361359.3:p.Glu268=
ENST00000466205.5:c.706G>A
ENST00000489304.5:n.880G>A
ENST00000620709.4:c.*351G>A	ENSP00000484074.1:n.*351G>A
NM_001250.5:c.804G>A	NP_001241.1:p.Glu268=
NM_001302753.1:c.*130G>A	NP_001289682.1:n.*130G>A
NM_152854.3:c.*130G>A	NP_690593.1:n.*130G>A
NR_126502.1:n.897G>A
XM_005260617.2:c.816G>A	XP_005260674.1:p.Glu272=
XM_005260619.2:c.660G>A	XP_005260676.1:p.Glu220=
XR_936660.1:n.804G>A
NM_001322421.1:c.816G>A	NP_001309350.1:p.Glu272=
NM_001322422.1:c.648G>A	NP_001309351.1:p.Glu216=
NM_001362758.1:c.*130G>A	NP_001349687.1:n.*130G>A
NR_136327.1:n.800G>A
XM_005260619.3:c.660G>A	XP_005260676.1:p.Glu220=
XM_017028135.1:c.839G>A	XP_016883624.1:p.Arg280Lys
XM_017028136.1:c.737G>A	XP_016883625.1:p.Arg246Lys
NM_001250.6:c.804G>A MANE Select	NP_001241.1:p.Glu268=
NM_001302753.2:c.*130G>A	NP_001289682.1:n.*130G>A
NM_001322421.2:c.816G>A	NP_001309350.1:p.Glu272=
NM_001322422.2:c.648G>A	NP_001309351.1:p.Glu216=
NM_001362758.2:c.*130G>A	NP_001349687.1:n.*130G>A
NM_152854.4:c.*130G>A	NP_690593.1:n.*130G>A
NR_126502.2:n.837G>A
NR_136327.2:n.740G>A