Canonical Allele Identifier: CA315655026

Gene: CD40

Linked Data

• dbSNP Id: rs940067560
• gnomAD v2: 20-44757831-G-A
• gnomAD v3: 20-46129192-G-A
• gnomAD v4: 20-46129192-G-A
• MyVariant Identifiers: chr20:g.44757831G>A (hg19) ; chr20:g.46129192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129192G>A , CM000682.2:g.46129192G>A	GRCh38
NC_000020.10:g.44757831G>A , CM000682.1:g.44757831G>A	GRCh37
NC_000020.9:g.44191238G>A	NCBI36
NG_007279.1:g.15926G>A , LRG_40:g.15926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1069G>A	ENSP00000512096.1:n.1069G>A
ENST00000695675.1:n.2862G>A
ENST00000372285.8:c.*152G>A MANE Select	ENSP00000361359.3:n.*152G>A
ENST00000372276.7:c.*312G>A	ENSP00000361350.3:n.*312G>A
ENST00000372285.7:c.*152G>A	ENSP00000361359.3:n.*152G>A
ENST00000489304.5:n.1062G>A
ENST00000620709.4:c.*533G>A	ENSP00000484074.1:n.*533G>A
NM_001250.5:c.*152G>A	NP_001241.1:n.*152G>A
NM_001302753.1:c.*312G>A	NP_001289682.1:n.*312G>A
NM_152854.3:c.*312G>A	NP_690593.1:n.*312G>A
NR_126502.1:n.1079G>A
XM_005260617.2:c.*152G>A	XP_005260674.1:n.*152G>A
XM_005260619.2:c.*152G>A	XP_005260676.1:n.*152G>A
NM_001322421.1:c.*152G>A	NP_001309350.1:n.*152G>A
NM_001322422.1:c.*152G>A	NP_001309351.1:n.*152G>A
NM_001362758.1:c.*312G>A	NP_001349687.1:n.*312G>A
NR_136327.1:n.982G>A
XM_005260619.3:c.*152G>A	XP_005260676.1:n.*152G>A
XM_017028135.1:c.*49G>A	XP_016883624.1:n.*49G>A
XM_017028136.1:c.*49G>A	XP_016883625.1:n.*49G>A
NM_001250.6:c.*152G>A MANE Select	NP_001241.1:n.*152G>A
NM_001302753.2:c.*312G>A	NP_001289682.1:n.*312G>A
NM_001322421.2:c.*152G>A	NP_001309350.1:n.*152G>A
NM_001322422.2:c.*152G>A	NP_001309351.1:n.*152G>A
NM_001362758.2:c.*312G>A	NP_001349687.1:n.*312G>A
NM_152854.4:c.*312G>A	NP_690593.1:n.*312G>A
NR_126502.2:n.1019G>A
NR_136327.2:n.922G>A