Canonical Allele Identifier: CA409209558

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44756856C>G (hg19) ; chr20:g.46128217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128217C>G , CM000682.2:g.46128217C>G	GRCh38
NC_000020.10:g.44756856C>G , CM000682.1:g.44756856C>G	GRCh37
NC_000020.9:g.44190263C>G	NCBI36
NG_007279.1:g.14951C>G , LRG_40:g.14951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.641C>G	ENSP00000512095.1:n.641C>G
ENST00000489304.6:c.722C>G	ENSP00000512096.1:n.722C>G
ENST00000695670.1:n.608C>G
ENST00000695671.1:c.679C>G	ENSP00000512093.1:p.Leu227Val
ENST00000695674.1:n.1118C>G
ENST00000695675.1:n.2515C>G
ENST00000372285.8:c.639C>G MANE Select	ENSP00000361359.3:p.Val213=
ENST00000372276.7:c.577C>G	ENSP00000361350.3:p.Leu193Val
ENST00000372285.7:c.639C>G	ENSP00000361359.3:p.Val213=
ENST00000466205.5:c.541C>G
ENST00000477696.5:n.612C>G
ENST00000489304.5:n.715C>G
ENST00000620709.4:c.*186C>G	ENSP00000484074.1:n.*186C>G
NM_001250.5:c.639C>G	NP_001241.1:p.Val213=
NM_001302753.1:c.679C>G	NP_001289682.1:p.Leu227Val
NM_152854.3:c.577C>G	NP_690593.1:p.Leu193Val
NR_126502.1:n.732C>G
XM_005260617.2:c.639C>G	XP_005260674.1:p.Val213=
XM_005260619.2:c.483C>G	XP_005260676.1:p.Val161=
XR_936660.1:n.639C>G
NM_001322421.1:c.639C>G	NP_001309350.1:p.Val213=
NM_001322422.1:c.483C>G	NP_001309351.1:p.Val161=
NM_001362758.1:c.639C>G	NP_001349687.1:p.Val213=
NR_136327.1:n.635C>G
XM_005260619.3:c.483C>G	XP_005260676.1:p.Val161=
XM_017028135.1:c.679C>G	XP_016883624.1:p.Leu227Val
XM_017028136.1:c.577C>G	XP_016883625.1:p.Leu193Val
NM_001250.6:c.639C>G MANE Select	NP_001241.1:p.Val213=
NM_001302753.2:c.679C>G	NP_001289682.1:p.Leu227Val
NM_001322421.2:c.639C>G	NP_001309350.1:p.Val213=
NM_001322422.2:c.483C>G	NP_001309351.1:p.Val161=
NM_001362758.2:c.639C>G	NP_001349687.1:p.Val213=
NM_152854.4:c.577C>G	NP_690593.1:p.Leu193Val
NR_126502.2:n.672C>G
NR_136327.2:n.575C>G