Canonical Allele Identifier: CA510657872

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757652T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129013T>C , CM000682.2:g.46129013T>C	GRCh38
NC_000020.10:g.44757652T>C , CM000682.1:g.44757652T>C	GRCh37
NC_000020.9:g.44191059T>C	NCBI36
NG_007279.1:g.15747T>C , LRG_40:g.15747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.890T>C	ENSP00000512096.1:n.890T>C
ENST00000695675.1:n.2683T>C
ENST00000372285.8:c.807T>C MANE Select	ENSP00000361359.3:p.Ser269=
ENST00000372276.7:c.*133T>C	ENSP00000361350.3:n.*133T>C
ENST00000372285.7:c.807T>C	ENSP00000361359.3:p.Ser269=
ENST00000466205.5:c.709T>C
ENST00000489304.5:n.883T>C
ENST00000620709.4:c.*354T>C	ENSP00000484074.1:n.*354T>C
NM_001250.5:c.807T>C	NP_001241.1:p.Ser269=
NM_001302753.1:c.*133T>C	NP_001289682.1:n.*133T>C
NM_152854.3:c.*133T>C	NP_690593.1:n.*133T>C
NR_126502.1:n.900T>C
XM_005260617.2:c.819T>C	XP_005260674.1:p.Ser273=
XM_005260619.2:c.663T>C	XP_005260676.1:p.Ser221=
XR_936660.1:n.807T>C
NM_001322421.1:c.819T>C	NP_001309350.1:p.Ser273=
NM_001322422.1:c.651T>C	NP_001309351.1:p.Ser217=
NM_001362758.1:c.*133T>C	NP_001349687.1:n.*133T>C
NR_136327.1:n.803T>C
XM_005260619.3:c.663T>C	XP_005260676.1:p.Ser221=
XM_017028135.1:c.842T>C	XP_016883624.1:p.Val281Ala
XM_017028136.1:c.740T>C	XP_016883625.1:p.Val247Ala
NM_001250.6:c.807T>C MANE Select	NP_001241.1:p.Ser269=
NM_001302753.2:c.*133T>C	NP_001289682.1:n.*133T>C
NM_001322421.2:c.819T>C	NP_001309350.1:p.Ser273=
NM_001322422.2:c.651T>C	NP_001309351.1:p.Ser217=
NM_001362758.2:c.*133T>C	NP_001349687.1:n.*133T>C
NM_152854.4:c.*133T>C	NP_690593.1:n.*133T>C
NR_126502.2:n.840T>C
NR_136327.2:n.743T>C