Canonical Allele Identifier: CA9888684

Gene: CD40

Linked Data

• dbSNP Id: rs755836869
• ExAC: 20:44757740 GTGC / G
• gnomAD v2: 20-44757740-GTGC-G
• gnomAD v4: 20-46129101-GTGC-G
• MyVariant Identifiers: chr20:g.44757741_44757743del (hg19) ; chr20:g.46129102_46129104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129113_46129115del , CM000682.2:g.46129113_46129115del	GRCh38
NC_000020.10:g.44757752_44757754del , CM000682.1:g.44757752_44757754del	GRCh37
NC_000020.9:g.44191159_44191161del	NCBI36
NG_007279.1:g.15847_15849del , LRG_40:g.15847_15849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.990_992del	ENSP00000512096.1:n.990_992del
ENST00000695675.1:n.2783_2785del
ENST00000372285.8:c.*73_*75del MANE Select	ENSP00000361359.3:n.*73_*75del
ENST00000372276.7:c.*233_*235del	ENSP00000361350.3:n.*233_*235del
ENST00000372285.7:c.*73_*75del	ENSP00000361359.3:n.*73_*75del
ENST00000466205.5:c.809_811del
ENST00000489304.5:n.983_985del
ENST00000620709.4:c.*454_*456del	ENSP00000484074.1:n.*454_*456del
NM_001250.5:c.*73_*75del	NP_001241.1:n.*73_*75del
NM_001302753.1:c.*233_*235del	NP_001289682.1:n.*233_*235del
NM_152854.3:c.*233_*235del	NP_690593.1:n.*233_*235del
NR_126502.1:n.1000_1002del
XM_005260617.2:c.*73_*75del	XP_005260674.1:n.*73_*75del
XM_005260619.2:c.*73_*75del	XP_005260676.1:n.*73_*75del
NM_001322421.1:c.*73_*75del	NP_001309350.1:n.*73_*75del
NM_001322422.1:c.*73_*75del	NP_001309351.1:n.*73_*75del
NM_001362758.1:c.*233_*235del	NP_001349687.1:n.*233_*235del
NR_136327.1:n.903_905del
XM_005260619.3:c.*73_*75del	XP_005260676.1:n.*73_*75del
XM_017028135.1:c.942_944del	XP_016883624.1:p.Cys315del
XM_017028136.1:c.840_842del	XP_016883625.1:p.Cys281del
NM_001250.6:c.*73_*75del MANE Select	NP_001241.1:n.*73_*75del
NM_001302753.2:c.*233_*235del	NP_001289682.1:n.*233_*235del
NM_001322421.2:c.*73_*75del	NP_001309350.1:n.*73_*75del
NM_001322422.2:c.*73_*75del	NP_001309351.1:n.*73_*75del
NM_001362758.2:c.*233_*235del	NP_001349687.1:n.*233_*235del
NM_152854.4:c.*233_*235del	NP_690593.1:n.*233_*235del
NR_126502.2:n.940_942del
NR_136327.2:n.843_845del