Canonical Allele Identifier: CA9888676

Gene: CD40

Linked Data

• dbSNP Id: rs750063120
• ExAC: 20:44757645 AAG / A
• gnomAD v2: 20-44757645-AAG-A
• gnomAD v3: 20-46129006-AAG-A
• gnomAD v4: 20-46129006-AAG-A
• MyVariant Identifiers: chr20:g.44757646_44757647del (hg19) ; chr20:g.46129007_46129008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129011_46129012del , CM000682.2:g.46129011_46129012del	GRCh38
NC_000020.10:g.44757650_44757651del , CM000682.1:g.44757650_44757651del	GRCh37
NC_000020.9:g.44191057_44191058del	NCBI36
NG_007279.1:g.15745_15746del , LRG_40:g.15745_15746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.888_889del	ENSP00000512096.1:n.888_889del
ENST00000695675.1:n.2681_2682del
ENST00000372285.8:c.805_806del MANE Select	ENSP00000361359.3:p.Arg270HisfsTer?
ENST00000372276.7:c.*131_*132del	ENSP00000361350.3:n.*131_*132del
ENST00000372285.7:c.805_806del	ENSP00000361359.3:p.Arg270HisfsTer?
ENST00000466205.5:c.707_708del
ENST00000489304.5:n.881_882del
ENST00000620709.4:c.*352_*353del	ENSP00000484074.1:n.*352_*353del
NM_001250.5:c.805_806del	NP_001241.1:p.Arg270HisfsTer?
NM_001302753.1:c.*131_*132del	NP_001289682.1:n.*131_*132del
NM_152854.3:c.*131_*132del	NP_690593.1:n.*131_*132del
NR_126502.1:n.898_899del
XM_005260617.2:c.817_818del	XP_005260674.1:p.Arg274HisfsTer?
XM_005260619.2:c.661_662del	XP_005260676.1:p.Arg222HisfsTer?
XR_936660.1:n.805_806del
NM_001322421.1:c.817_818del	NP_001309350.1:p.Arg274HisfsTer?
NM_001322422.1:c.649_650del	NP_001309351.1:p.Arg218HisfsTer?
NM_001362758.1:c.*131_*132del	NP_001349687.1:n.*131_*132del
NR_136327.1:n.801_802del
XM_005260619.3:c.661_662del	XP_005260676.1:p.Arg222HisfsTer?
XM_017028135.1:c.840_841del	XP_016883624.1:p.Arg280SerfsTer10
XM_017028136.1:c.738_739del	XP_016883625.1:p.Arg246SerfsTer10
NM_001250.6:c.805_806del MANE Select	NP_001241.1:p.Arg270HisfsTer?
NM_001302753.2:c.*131_*132del	NP_001289682.1:n.*131_*132del
NM_001322421.2:c.817_818del	NP_001309350.1:p.Arg274HisfsTer?
NM_001322422.2:c.649_650del	NP_001309351.1:p.Arg218HisfsTer?
NM_001362758.2:c.*131_*132del	NP_001349687.1:n.*131_*132del
NM_152854.4:c.*131_*132del	NP_690593.1:n.*131_*132del
NR_126502.2:n.838_839del
NR_136327.2:n.741_742del