Canonical Allele Identifier: CA409212224

Gene: CD40

Linked Data

• dbSNP Id: rs1424767169
• gnomAD v2: 20-44757641-G-A
• gnomAD v4: 20-46129002-G-A
• MyVariant Identifiers: chr20:g.44757641G>A (hg19) ; chr20:g.46129002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129002G>A , CM000682.2:g.46129002G>A	GRCh38
NC_000020.10:g.44757641G>A , CM000682.1:g.44757641G>A	GRCh37
NC_000020.9:g.44191048G>A	NCBI36
NG_007279.1:g.15736G>A , LRG_40:g.15736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.798G>A	ENSP00000512095.1:n.798G>A
ENST00000489304.6:c.879G>A	ENSP00000512096.1:n.879G>A
ENST00000695675.1:n.2672G>A
ENST00000372285.8:c.796G>A MANE Select	ENSP00000361359.3:p.Gly266Ser
ENST00000372276.7:c.*122G>A	ENSP00000361350.3:n.*122G>A
ENST00000372285.7:c.796G>A	ENSP00000361359.3:p.Gly266Ser
ENST00000466205.5:c.698G>A
ENST00000477696.5:n.769G>A
ENST00000489304.5:n.872G>A
ENST00000620709.4:c.*343G>A	ENSP00000484074.1:n.*343G>A
NM_001250.5:c.796G>A	NP_001241.1:p.Gly266Ser
NM_001302753.1:c.*122G>A	NP_001289682.1:n.*122G>A
NM_152854.3:c.*122G>A	NP_690593.1:n.*122G>A
NR_126502.1:n.889G>A
XM_005260617.2:c.808G>A	XP_005260674.1:p.Gly270Ser
XM_005260619.2:c.652G>A	XP_005260676.1:p.Gly218Ser
XR_936660.1:n.796G>A
NM_001322421.1:c.808G>A	NP_001309350.1:p.Gly270Ser
NM_001322422.1:c.640G>A	NP_001309351.1:p.Gly214Ser
NM_001362758.1:c.*122G>A	NP_001349687.1:n.*122G>A
NR_136327.1:n.792G>A
XM_005260619.3:c.652G>A	XP_005260676.1:p.Gly218Ser
XM_017028135.1:c.831G>A	XP_016883624.1:p.Met277Ile
XM_017028136.1:c.729G>A	XP_016883625.1:p.Met243Ile
NM_001250.6:c.796G>A MANE Select	NP_001241.1:p.Gly266Ser
NM_001302753.2:c.*122G>A	NP_001289682.1:n.*122G>A
NM_001322421.2:c.808G>A	NP_001309350.1:p.Gly270Ser
NM_001322422.2:c.640G>A	NP_001309351.1:p.Gly214Ser
NM_001362758.2:c.*122G>A	NP_001349687.1:n.*122G>A
NM_152854.4:c.*122G>A	NP_690593.1:n.*122G>A
NR_126502.2:n.829G>A
NR_136327.2:n.732G>A