Canonical Allele Identifier: CA409212291

Gene: CD40

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.888A>C	ENSP00000512096.1:n.888A>C
ENST00000695675.1:n.2681A>C
ENST00000372285.8:c.805A>C MANE Select	ENSP00000361359.3:p.Ser269Arg
ENST00000372276.7:c.*131A>C	ENSP00000361350.3:n.*131A>C
ENST00000372285.7:c.805A>C	ENSP00000361359.3:p.Ser269Arg
ENST00000466205.5:c.707A>C
ENST00000489304.5:n.881A>C
ENST00000620709.4:c.*352A>C	ENSP00000484074.1:n.*352A>C
NM_001250.5:c.805A>C	NP_001241.1:p.Ser269Arg
NM_001302753.1:c.*131A>C	NP_001289682.1:n.*131A>C
NM_152854.3:c.*131A>C	NP_690593.1:n.*131A>C
NR_126502.1:n.898A>C
XM_005260617.2:c.817A>C	XP_005260674.1:p.Ser273Arg
XM_005260619.2:c.661A>C	XP_005260676.1:p.Ser221Arg
XR_936660.1:n.805A>C
NM_001322421.1:c.817A>C	NP_001309350.1:p.Ser273Arg
NM_001322422.1:c.649A>C	NP_001309351.1:p.Ser217Arg
NM_001362758.1:c.*131A>C	NP_001349687.1:n.*131A>C
NR_136327.1:n.801A>C
XM_005260619.3:c.661A>C	XP_005260676.1:p.Ser221Arg
XM_017028135.1:c.840A>C	XP_016883624.1:p.Arg280Ser
XM_017028136.1:c.738A>C	XP_016883625.1:p.Arg246Ser
NM_001250.6:c.805A>C MANE Select	NP_001241.1:p.Ser269Arg
NM_001302753.2:c.*131A>C	NP_001289682.1:n.*131A>C
NM_001322421.2:c.817A>C	NP_001309350.1:p.Ser273Arg
NM_001322422.2:c.649A>C	NP_001309351.1:p.Ser217Arg
NM_001362758.2:c.*131A>C	NP_001349687.1:n.*131A>C
NM_152854.4:c.*131A>C	NP_690593.1:n.*131A>C
NR_126502.2:n.838A>C
NR_136327.2:n.741A>C