Canonical Allele Identifier: CA409212486

Gene: CD40

Linked Data

• gnomAD v4: 20-46129035-C-G
• MyVariant Identifiers: chr20:g.44757674C>G (hg19) ; chr20:g.46129035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129035C>G , CM000682.2:g.46129035C>G	GRCh38
NC_000020.10:g.44757674C>G , CM000682.1:g.44757674C>G	GRCh37
NC_000020.9:g.44191081C>G	NCBI36
NG_007279.1:g.15769C>G , LRG_40:g.15769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.912C>G	ENSP00000512096.1:n.912C>G
ENST00000695675.1:n.2705C>G
ENST00000372285.8:c.829C>G MANE Select	ENSP00000361359.3:p.Gln277Glu
ENST00000372276.7:c.*155C>G	ENSP00000361350.3:n.*155C>G
ENST00000372285.7:c.829C>G	ENSP00000361359.3:p.Gln277Glu
ENST00000466205.5:c.731C>G
ENST00000489304.5:n.905C>G
ENST00000620709.4:c.*376C>G	ENSP00000484074.1:n.*376C>G
NM_001250.5:c.829C>G	NP_001241.1:p.Gln277Glu
NM_001302753.1:c.*155C>G	NP_001289682.1:n.*155C>G
NM_152854.3:c.*155C>G	NP_690593.1:n.*155C>G
NR_126502.1:n.922C>G
XM_005260617.2:c.841C>G	XP_005260674.1:p.Gln281Glu
XM_005260619.2:c.685C>G	XP_005260676.1:p.Gln229Glu
XR_936660.1:n.829C>G
NM_001322421.1:c.841C>G	NP_001309350.1:p.Gln281Glu
NM_001322422.1:c.673C>G	NP_001309351.1:p.Gln225Glu
NM_001362758.1:c.*155C>G	NP_001349687.1:n.*155C>G
NR_136327.1:n.825C>G
XM_005260619.3:c.685C>G	XP_005260676.1:p.Gln229Glu
XM_017028135.1:c.864C>G	XP_016883624.1:p.Asp288Glu
XM_017028136.1:c.762C>G	XP_016883625.1:p.Asp254Glu
NM_001250.6:c.829C>G MANE Select	NP_001241.1:p.Gln277Glu
NM_001302753.2:c.*155C>G	NP_001289682.1:n.*155C>G
NM_001322421.2:c.841C>G	NP_001309350.1:p.Gln281Glu
NM_001322422.2:c.673C>G	NP_001309351.1:p.Gln225Glu
NM_001362758.2:c.*155C>G	NP_001349687.1:n.*155C>G
NM_152854.4:c.*155C>G	NP_690593.1:n.*155C>G
NR_126502.2:n.862C>G
NR_136327.2:n.765C>G