Canonical Allele Identifier: CA9888699

Gene: CD40

Linked Data

• dbSNP Id: rs761892578
• ExAC: 20:44757812 C / A
• gnomAD v2: 20-44757812-C-A
• gnomAD v4: 20-46129173-C-A
• MyVariant Identifiers: chr20:g.44757812C>A (hg19) ; chr20:g.46129173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129173C>A , CM000682.2:g.46129173C>A	GRCh38
NC_000020.10:g.44757812C>A , CM000682.1:g.44757812C>A	GRCh37
NC_000020.9:g.44191219C>A	NCBI36
NG_007279.1:g.15907C>A , LRG_40:g.15907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1050C>A	ENSP00000512096.1:n.1050C>A
ENST00000695675.1:n.2843C>A
ENST00000372285.8:c.*133C>A MANE Select	ENSP00000361359.3:n.*133C>A
ENST00000372276.7:c.*293C>A	ENSP00000361350.3:n.*293C>A
ENST00000372285.7:c.*133C>A	ENSP00000361359.3:n.*133C>A
ENST00000489304.5:n.1043C>A
ENST00000620709.4:c.*514C>A	ENSP00000484074.1:n.*514C>A
NM_001250.5:c.*133C>A	NP_001241.1:n.*133C>A
NM_001302753.1:c.*293C>A	NP_001289682.1:n.*293C>A
NM_152854.3:c.*293C>A	NP_690593.1:n.*293C>A
NR_126502.1:n.1060C>A
XM_005260617.2:c.*133C>A	XP_005260674.1:n.*133C>A
XM_005260619.2:c.*133C>A	XP_005260676.1:n.*133C>A
NM_001322421.1:c.*133C>A	NP_001309350.1:n.*133C>A
NM_001322422.1:c.*133C>A	NP_001309351.1:n.*133C>A
NM_001362758.1:c.*293C>A	NP_001349687.1:n.*293C>A
NR_136327.1:n.963C>A
XM_005260619.3:c.*133C>A	XP_005260676.1:n.*133C>A
XM_017028135.1:c.*30C>A	XP_016883624.1:n.*30C>A
XM_017028136.1:c.*30C>A	XP_016883625.1:n.*30C>A
NM_001250.6:c.*133C>A MANE Select	NP_001241.1:n.*133C>A
NM_001302753.2:c.*293C>A	NP_001289682.1:n.*293C>A
NM_001322421.2:c.*133C>A	NP_001309350.1:n.*133C>A
NM_001322422.2:c.*133C>A	NP_001309351.1:n.*133C>A
NM_001362758.2:c.*293C>A	NP_001349687.1:n.*293C>A
NM_152854.4:c.*293C>A	NP_690593.1:n.*293C>A
NR_126502.2:n.1000C>A
NR_136327.2:n.903C>A