Canonical Allele Identifier: CA409212315

Gene: CD40

Linked Data

• ClinVar Variation Id: 1396737
• ClinVar RCV Id: RCV001903141
• dbSNP Id: rs1467218500
• MyVariant Identifiers: chr20:g.44757653C>A (hg19) ; chr20:g.46129014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129014C>A , CM000682.2:g.46129014C>A	GRCh38
NC_000020.10:g.44757653C>A , CM000682.1:g.44757653C>A	GRCh37
NC_000020.9:g.44191060C>A	NCBI36
NG_007279.1:g.15748C>A , LRG_40:g.15748C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.891C>A	ENSP00000512096.1:n.891C>A
ENST00000695675.1:n.2684C>A
ENST00000372285.8:c.808C>A MANE Select	ENSP00000361359.3:p.Arg270Ser
ENST00000372276.7:c.*134C>A	ENSP00000361350.3:n.*134C>A
ENST00000372285.7:c.808C>A	ENSP00000361359.3:p.Arg270Ser
ENST00000466205.5:c.710C>A
ENST00000489304.5:n.884C>A
ENST00000620709.4:c.*355C>A	ENSP00000484074.1:n.*355C>A
NM_001250.5:c.808C>A	NP_001241.1:p.Arg270Ser
NM_001302753.1:c.*134C>A	NP_001289682.1:n.*134C>A
NM_152854.3:c.*134C>A	NP_690593.1:n.*134C>A
NR_126502.1:n.901C>A
XM_005260617.2:c.820C>A	XP_005260674.1:p.Arg274Ser
XM_005260619.2:c.664C>A	XP_005260676.1:p.Arg222Ser
XR_936660.1:n.808C>A
NM_001322421.1:c.820C>A	NP_001309350.1:p.Arg274Ser
NM_001322422.1:c.652C>A	NP_001309351.1:p.Arg218Ser
NM_001362758.1:c.*134C>A	NP_001349687.1:n.*134C>A
NR_136327.1:n.804C>A
XM_005260619.3:c.664C>A	XP_005260676.1:p.Arg222Ser
XM_017028135.1:c.843C>A	XP_016883624.1:p.Val281=
XM_017028136.1:c.741C>A	XP_016883625.1:p.Val247=
NM_001250.6:c.808C>A MANE Select	NP_001241.1:p.Arg270Ser
NM_001302753.2:c.*134C>A	NP_001289682.1:n.*134C>A
NM_001322421.2:c.820C>A	NP_001309350.1:p.Arg274Ser
NM_001322422.2:c.652C>A	NP_001309351.1:p.Arg218Ser
NM_001362758.2:c.*134C>A	NP_001349687.1:n.*134C>A
NM_152854.4:c.*134C>A	NP_690593.1:n.*134C>A
NR_126502.2:n.841C>A
NR_136327.2:n.744C>A