Canonical Allele Identifier: CA9888683

Gene: CD40

Linked Data

• dbSNP Id: rs754823732
• ExAC: 20:44757729 C / T
• gnomAD v2: 20-44757729-C-T
• gnomAD v4: 20-46129090-C-T
• MyVariant Identifiers: chr20:g.44757729C>T (hg19) ; chr20:g.46129090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129090C>T , CM000682.2:g.46129090C>T	GRCh38
NC_000020.10:g.44757729C>T , CM000682.1:g.44757729C>T	GRCh37
NC_000020.9:g.44191136C>T	NCBI36
NG_007279.1:g.15824C>T , LRG_40:g.15824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.967C>T	ENSP00000512096.1:n.967C>T
ENST00000695675.1:n.2760C>T
ENST00000372285.8:c.*50C>T MANE Select	ENSP00000361359.3:n.*50C>T
ENST00000372276.7:c.*210C>T	ENSP00000361350.3:n.*210C>T
ENST00000372285.7:c.*50C>T	ENSP00000361359.3:n.*50C>T
ENST00000466205.5:c.786C>T
ENST00000489304.5:n.960C>T
ENST00000620709.4:c.*431C>T	ENSP00000484074.1:n.*431C>T
NM_001250.5:c.*50C>T	NP_001241.1:n.*50C>T
NM_001302753.1:c.*210C>T	NP_001289682.1:n.*210C>T
NM_152854.3:c.*210C>T	NP_690593.1:n.*210C>T
NR_126502.1:n.977C>T
XM_005260617.2:c.*50C>T	XP_005260674.1:n.*50C>T
XM_005260619.2:c.*50C>T	XP_005260676.1:n.*50C>T
NM_001322421.1:c.*50C>T	NP_001309350.1:n.*50C>T
NM_001322422.1:c.*50C>T	NP_001309351.1:n.*50C>T
NM_001362758.1:c.*210C>T	NP_001349687.1:n.*210C>T
NR_136327.1:n.880C>T
XM_005260619.3:c.*50C>T	XP_005260676.1:n.*50C>T
XM_017028135.1:c.919C>T	XP_016883624.1:p.Gln307Ter
XM_017028136.1:c.817C>T	XP_016883625.1:p.Gln273Ter
NM_001250.6:c.*50C>T MANE Select	NP_001241.1:n.*50C>T
NM_001302753.2:c.*210C>T	NP_001289682.1:n.*210C>T
NM_001322421.2:c.*50C>T	NP_001309350.1:n.*50C>T
NM_001322422.2:c.*50C>T	NP_001309351.1:n.*50C>T
NM_001362758.2:c.*210C>T	NP_001349687.1:n.*210C>T
NM_152854.4:c.*210C>T	NP_690593.1:n.*210C>T
NR_126502.2:n.917C>T
NR_136327.2:n.820C>T