Canonical Allele Identifier: CA409212385

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757663T>C (hg19) ; chr20:g.46129024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129024T>C , CM000682.2:g.46129024T>C	GRCh38
NC_000020.10:g.44757663T>C , CM000682.1:g.44757663T>C	GRCh37
NC_000020.9:g.44191070T>C	NCBI36
NG_007279.1:g.15758T>C , LRG_40:g.15758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.901T>C	ENSP00000512096.1:n.901T>C
ENST00000695675.1:n.2694T>C
ENST00000372285.8:c.818T>C MANE Select	ENSP00000361359.3:p.Val273Ala
ENST00000372276.7:c.*144T>C	ENSP00000361350.3:n.*144T>C
ENST00000372285.7:c.818T>C	ENSP00000361359.3:p.Val273Ala
ENST00000466205.5:c.720T>C
ENST00000489304.5:n.894T>C
ENST00000620709.4:c.*365T>C	ENSP00000484074.1:n.*365T>C
NM_001250.5:c.818T>C	NP_001241.1:p.Val273Ala
NM_001302753.1:c.*144T>C	NP_001289682.1:n.*144T>C
NM_152854.3:c.*144T>C	NP_690593.1:n.*144T>C
NR_126502.1:n.911T>C
XM_005260617.2:c.830T>C	XP_005260674.1:p.Val277Ala
XM_005260619.2:c.674T>C	XP_005260676.1:p.Val225Ala
XR_936660.1:n.818T>C
NM_001322421.1:c.830T>C	NP_001309350.1:p.Val277Ala
NM_001322422.1:c.662T>C	NP_001309351.1:p.Val221Ala
NM_001362758.1:c.*144T>C	NP_001349687.1:n.*144T>C
NR_136327.1:n.814T>C
XM_005260619.3:c.674T>C	XP_005260676.1:p.Val225Ala
XM_017028135.1:c.853T>C	XP_016883624.1:p.Cys285Arg
XM_017028136.1:c.751T>C	XP_016883625.1:p.Cys251Arg
NM_001250.6:c.818T>C MANE Select	NP_001241.1:p.Val273Ala
NM_001302753.2:c.*144T>C	NP_001289682.1:n.*144T>C
NM_001322421.2:c.830T>C	NP_001309350.1:p.Val277Ala
NM_001322422.2:c.662T>C	NP_001309351.1:p.Val221Ala
NM_001362758.2:c.*144T>C	NP_001349687.1:n.*144T>C
NM_152854.4:c.*144T>C	NP_690593.1:n.*144T>C
NR_126502.2:n.851T>C
NR_136327.2:n.754T>C