Canonical Allele Identifier: CA409211503

Gene: CD40

Linked Data

• gnomAD v4: 20-46128889-A-G
• MyVariant Identifiers: chr20:g.44757528A>G (hg19) ; chr20:g.46128889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128889A>G , CM000682.2:g.46128889A>G	GRCh38
NC_000020.10:g.44757528A>G , CM000682.1:g.44757528A>G	GRCh37
NC_000020.9:g.44190935A>G	NCBI36
NG_007279.1:g.15623A>G , LRG_40:g.15623A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.685A>G	ENSP00000512095.1:n.685A>G
ENST00000489304.6:c.766A>G	ENSP00000512096.1:n.766A>G
ENST00000695675.1:n.2559A>G
ENST00000372285.8:c.683A>G MANE Select	ENSP00000361359.3:p.His228Arg
ENST00000372276.7:c.*9A>G	ENSP00000361350.3:n.*9A>G
ENST00000372285.7:c.683A>G	ENSP00000361359.3:p.His228Arg
ENST00000466205.5:c.585A>G
ENST00000477696.5:n.656A>G
ENST00000489304.5:n.759A>G
ENST00000620709.4:c.*230A>G	ENSP00000484074.1:n.*230A>G
NM_001250.5:c.683A>G	NP_001241.1:p.His228Arg
NM_001302753.1:c.*9A>G	NP_001289682.1:n.*9A>G
NM_152854.3:c.*9A>G	NP_690593.1:n.*9A>G
NR_126502.1:n.776A>G
XM_005260617.2:c.695A>G	XP_005260674.1:p.His232Arg
XM_005260619.2:c.539A>G	XP_005260676.1:p.His180Arg
XR_936660.1:n.683A>G
NM_001322421.1:c.695A>G	NP_001309350.1:p.His232Arg
NM_001322422.1:c.527A>G	NP_001309351.1:p.His176Arg
NM_001362758.1:c.*9A>G	NP_001349687.1:n.*9A>G
NR_136327.1:n.679A>G
XM_005260619.3:c.539A>G	XP_005260676.1:p.His180Arg
XM_017028135.1:c.718A>G	XP_016883624.1:p.Thr240Ala
XM_017028136.1:c.616A>G	XP_016883625.1:p.Thr206Ala
NM_001250.6:c.683A>G MANE Select	NP_001241.1:p.His228Arg
NM_001302753.2:c.*9A>G	NP_001289682.1:n.*9A>G
NM_001322421.2:c.695A>G	NP_001309350.1:p.His232Arg
NM_001322422.2:c.527A>G	NP_001309351.1:p.His176Arg
NM_001362758.2:c.*9A>G	NP_001349687.1:n.*9A>G
NM_152854.4:c.*9A>G	NP_690593.1:n.*9A>G
NR_126502.2:n.716A>G
NR_136327.2:n.619A>G