Canonical Allele Identifier: CA409212294

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757650A>T (hg19) ; chr20:g.46129011A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129011A>T , CM000682.2:g.46129011A>T	GRCh38
NC_000020.10:g.44757650A>T , CM000682.1:g.44757650A>T	GRCh37
NC_000020.9:g.44191057A>T	NCBI36
NG_007279.1:g.15745A>T , LRG_40:g.15745A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.888A>T	ENSP00000512096.1:n.888A>T
ENST00000695675.1:n.2681A>T
ENST00000372285.8:c.805A>T MANE Select	ENSP00000361359.3:p.Ser269Cys
ENST00000372276.7:c.*131A>T	ENSP00000361350.3:n.*131A>T
ENST00000372285.7:c.805A>T	ENSP00000361359.3:p.Ser269Cys
ENST00000466205.5:c.707A>T
ENST00000489304.5:n.881A>T
ENST00000620709.4:c.*352A>T	ENSP00000484074.1:n.*352A>T
NM_001250.5:c.805A>T	NP_001241.1:p.Ser269Cys
NM_001302753.1:c.*131A>T	NP_001289682.1:n.*131A>T
NM_152854.3:c.*131A>T	NP_690593.1:n.*131A>T
NR_126502.1:n.898A>T
XM_005260617.2:c.817A>T	XP_005260674.1:p.Ser273Cys
XM_005260619.2:c.661A>T	XP_005260676.1:p.Ser221Cys
XR_936660.1:n.805A>T
NM_001322421.1:c.817A>T	NP_001309350.1:p.Ser273Cys
NM_001322422.1:c.649A>T	NP_001309351.1:p.Ser217Cys
NM_001362758.1:c.*131A>T	NP_001349687.1:n.*131A>T
NR_136327.1:n.801A>T
XM_005260619.3:c.661A>T	XP_005260676.1:p.Ser221Cys
XM_017028135.1:c.840A>T	XP_016883624.1:p.Arg280Ser
XM_017028136.1:c.738A>T	XP_016883625.1:p.Arg246Ser
NM_001250.6:c.805A>T MANE Select	NP_001241.1:p.Ser269Cys
NM_001302753.2:c.*131A>T	NP_001289682.1:n.*131A>T
NM_001322421.2:c.817A>T	NP_001309350.1:p.Ser273Cys
NM_001322422.2:c.649A>T	NP_001309351.1:p.Ser217Cys
NM_001362758.2:c.*131A>T	NP_001349687.1:n.*131A>T
NM_152854.4:c.*131A>T	NP_690593.1:n.*131A>T
NR_126502.2:n.838A>T
NR_136327.2:n.741A>T