Canonical Allele Identifier: CA409209336

Gene: CD40

Linked Data

• dbSNP Id: rs1484009178
• gnomAD v2: 20-44756837-C-G
• MyVariant Identifiers: chr20:g.44756837C>G (hg19) ; chr20:g.46128198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128198C>G , CM000682.2:g.46128198C>G	GRCh38
NC_000020.10:g.44756837C>G , CM000682.1:g.44756837C>G	GRCh37
NC_000020.9:g.44190244C>G	NCBI36
NG_007279.1:g.14932C>G , LRG_40:g.14932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.622C>G	ENSP00000512095.1:n.622C>G
ENST00000489304.6:c.703C>G	ENSP00000512096.1:n.703C>G
ENST00000695670.1:n.589C>G
ENST00000695671.1:c.660C>G	ENSP00000512093.1:p.Cys220Trp
ENST00000695674.1:n.1099C>G
ENST00000695675.1:n.2496C>G
ENST00000372285.8:c.620C>G MANE Select	ENSP00000361359.3:p.Ala207Gly
ENST00000372276.7:c.558C>G	ENSP00000361350.3:p.Cys186Trp
ENST00000372285.7:c.620C>G	ENSP00000361359.3:p.Ala207Gly
ENST00000466205.5:c.522C>G
ENST00000477696.5:n.593C>G
ENST00000489304.5:n.696C>G
ENST00000620709.4:c.*167C>G	ENSP00000484074.1:n.*167C>G
NM_001250.5:c.620C>G	NP_001241.1:p.Ala207Gly
NM_001302753.1:c.660C>G	NP_001289682.1:p.Cys220Trp
NM_152854.3:c.558C>G	NP_690593.1:p.Cys186Trp
NR_126502.1:n.713C>G
XM_005260617.2:c.620C>G	XP_005260674.1:p.Ala207Gly
XM_005260619.2:c.464C>G	XP_005260676.1:p.Ala155Gly
XR_936660.1:n.620C>G
NM_001322421.1:c.620C>G	NP_001309350.1:p.Ala207Gly
NM_001322422.1:c.464C>G	NP_001309351.1:p.Ala155Gly
NM_001362758.1:c.620C>G	NP_001349687.1:p.Ala207Gly
NR_136327.1:n.616C>G
XM_005260619.3:c.464C>G	XP_005260676.1:p.Ala155Gly
XM_017028135.1:c.660C>G	XP_016883624.1:p.Cys220Trp
XM_017028136.1:c.558C>G	XP_016883625.1:p.Cys186Trp
NM_001250.6:c.620C>G MANE Select	NP_001241.1:p.Ala207Gly
NM_001302753.2:c.660C>G	NP_001289682.1:p.Cys220Trp
NM_001322421.2:c.620C>G	NP_001309350.1:p.Ala207Gly
NM_001322422.2:c.464C>G	NP_001309351.1:p.Ala155Gly
NM_001362758.2:c.620C>G	NP_001349687.1:p.Ala207Gly
NM_152854.4:c.558C>G	NP_690593.1:p.Cys186Trp
NR_126502.2:n.653C>G
NR_136327.2:n.556C>G