Canonical Allele Identifier: CA510657881

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757664G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129025G>A , CM000682.2:g.46129025G>A	GRCh38
NC_000020.10:g.44757664G>A , CM000682.1:g.44757664G>A	GRCh37
NC_000020.9:g.44191071G>A	NCBI36
NG_007279.1:g.15759G>A , LRG_40:g.15759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.902G>A	ENSP00000512096.1:n.902G>A
ENST00000695675.1:n.2695G>A
ENST00000372285.8:c.819G>A MANE Select	ENSP00000361359.3:p.Val273=
ENST00000372276.7:c.*145G>A	ENSP00000361350.3:n.*145G>A
ENST00000372285.7:c.819G>A	ENSP00000361359.3:p.Val273=
ENST00000466205.5:c.721G>A
ENST00000489304.5:n.895G>A
ENST00000620709.4:c.*366G>A	ENSP00000484074.1:n.*366G>A
NM_001250.5:c.819G>A	NP_001241.1:p.Val273=
NM_001302753.1:c.*145G>A	NP_001289682.1:n.*145G>A
NM_152854.3:c.*145G>A	NP_690593.1:n.*145G>A
NR_126502.1:n.912G>A
XM_005260617.2:c.831G>A	XP_005260674.1:p.Val277=
XM_005260619.2:c.675G>A	XP_005260676.1:p.Val225=
XR_936660.1:n.819G>A
NM_001322421.1:c.831G>A	NP_001309350.1:p.Val277=
NM_001322422.1:c.663G>A	NP_001309351.1:p.Val221=
NM_001362758.1:c.*145G>A	NP_001349687.1:n.*145G>A
NR_136327.1:n.815G>A
XM_005260619.3:c.675G>A	XP_005260676.1:p.Val225=
XM_017028135.1:c.854G>A	XP_016883624.1:p.Cys285Tyr
XM_017028136.1:c.752G>A	XP_016883625.1:p.Cys251Tyr
NM_001250.6:c.819G>A MANE Select	NP_001241.1:p.Val273=
NM_001302753.2:c.*145G>A	NP_001289682.1:n.*145G>A
NM_001322421.2:c.831G>A	NP_001309350.1:p.Val277=
NM_001322422.2:c.663G>A	NP_001309351.1:p.Val221=
NM_001362758.2:c.*145G>A	NP_001349687.1:n.*145G>A
NM_152854.4:c.*145G>A	NP_690593.1:n.*145G>A
NR_126502.2:n.852G>A
NR_136327.2:n.755G>A