Canonical Allele Identifier: CA636177224

Gene: CD40

Linked Data

• dbSNP Id: rs1365535268
• gnomAD v2: 20-44757740-G-T
• gnomAD v4: 20-46129101-G-T
• MyVariant Identifiers: chr20:g.44757740_44757743delinsTTGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129101G>T , CM000682.2:g.46129101G>T	GRCh38
NC_000020.10:g.44757740G>T , CM000682.1:g.44757740G>T	GRCh37
NC_000020.9:g.44191147G>T	NCBI36
NG_007279.1:g.15835G>T , LRG_40:g.15835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.978G>T	ENSP00000512096.1:n.978G>T
ENST00000695675.1:n.2771G>T
ENST00000372285.8:c.*61G>T MANE Select	ENSP00000361359.3:n.*61G>T
ENST00000372276.7:c.*221G>T	ENSP00000361350.3:n.*221G>T
ENST00000372285.7:c.*61G>T	ENSP00000361359.3:n.*61G>T
ENST00000466205.5:c.797G>T
ENST00000489304.5:n.971G>T
ENST00000620709.4:c.*442G>T	ENSP00000484074.1:n.*442G>T
NM_001250.5:c.*61G>T	NP_001241.1:n.*61G>T
NM_001302753.1:c.*221G>T	NP_001289682.1:n.*221G>T
NM_152854.3:c.*221G>T	NP_690593.1:n.*221G>T
NR_126502.1:n.988G>T
XM_005260617.2:c.*61G>T	XP_005260674.1:n.*61G>T
XM_005260619.2:c.*61G>T	XP_005260676.1:n.*61G>T
NM_001322421.1:c.*61G>T	NP_001309350.1:n.*61G>T
NM_001322422.1:c.*61G>T	NP_001309351.1:n.*61G>T
NM_001362758.1:c.*221G>T	NP_001349687.1:n.*221G>T
NR_136327.1:n.891G>T
XM_005260619.3:c.*61G>T	XP_005260676.1:n.*61G>T
XM_017028135.1:c.930G>T	XP_016883624.1:p.Trp310Cys
XM_017028136.1:c.828G>T	XP_016883625.1:p.Trp276Cys
NM_001250.6:c.*61G>T MANE Select	NP_001241.1:n.*61G>T
NM_001302753.2:c.*221G>T	NP_001289682.1:n.*221G>T
NM_001322421.2:c.*61G>T	NP_001309350.1:n.*61G>T
NM_001322422.2:c.*61G>T	NP_001309351.1:n.*61G>T
NM_001362758.2:c.*221G>T	NP_001349687.1:n.*221G>T
NM_152854.4:c.*221G>T	NP_690593.1:n.*221G>T
NR_126502.2:n.928G>T
NR_136327.2:n.831G>T