Canonical Allele Identifier: CA510657873

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757655C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129016C>A , CM000682.2:g.46129016C>A	GRCh38
NC_000020.10:g.44757655C>A , CM000682.1:g.44757655C>A	GRCh37
NC_000020.9:g.44191062C>A	NCBI36
NG_007279.1:g.15750C>A , LRG_40:g.15750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.893C>A	ENSP00000512096.1:n.893C>A
ENST00000695675.1:n.2686C>A
ENST00000372285.8:c.810C>A MANE Select	ENSP00000361359.3:p.Arg270=
ENST00000372276.7:c.*136C>A	ENSP00000361350.3:n.*136C>A
ENST00000372285.7:c.810C>A	ENSP00000361359.3:p.Arg270=
ENST00000466205.5:c.712C>A
ENST00000489304.5:n.886C>A
ENST00000620709.4:c.*357C>A	ENSP00000484074.1:n.*357C>A
NM_001250.5:c.810C>A	NP_001241.1:p.Arg270=
NM_001302753.1:c.*136C>A	NP_001289682.1:n.*136C>A
NM_152854.3:c.*136C>A	NP_690593.1:n.*136C>A
NR_126502.1:n.903C>A
XM_005260617.2:c.822C>A	XP_005260674.1:p.Arg274=
XM_005260619.2:c.666C>A	XP_005260676.1:p.Arg222=
XR_936660.1:n.810C>A
NM_001322421.1:c.822C>A	NP_001309350.1:p.Arg274=
NM_001322422.1:c.654C>A	NP_001309351.1:p.Arg218=
NM_001362758.1:c.*136C>A	NP_001349687.1:n.*136C>A
NR_136327.1:n.806C>A
XM_005260619.3:c.666C>A	XP_005260676.1:p.Arg222=
XM_017028135.1:c.845C>A	XP_016883624.1:p.Ala282Glu
XM_017028136.1:c.743C>A	XP_016883625.1:p.Ala248Glu
NM_001250.6:c.810C>A MANE Select	NP_001241.1:p.Arg270=
NM_001302753.2:c.*136C>A	NP_001289682.1:n.*136C>A
NM_001322421.2:c.822C>A	NP_001309350.1:p.Arg274=
NM_001322422.2:c.654C>A	NP_001309351.1:p.Arg218=
NM_001362758.2:c.*136C>A	NP_001349687.1:n.*136C>A
NM_152854.4:c.*136C>A	NP_690593.1:n.*136C>A
NR_126502.2:n.843C>A
NR_136327.2:n.746C>A