Canonical Allele Identifier: CA409212189

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757635G>C (hg19) ; chr20:g.46128996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128996G>C , CM000682.2:g.46128996G>C	GRCh38
NC_000020.10:g.44757635G>C , CM000682.1:g.44757635G>C	GRCh37
NC_000020.9:g.44191042G>C	NCBI36
NG_007279.1:g.15730G>C , LRG_40:g.15730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.792G>C	ENSP00000512095.1:n.792G>C
ENST00000489304.6:c.873G>C	ENSP00000512096.1:n.873G>C
ENST00000695675.1:n.2666G>C
ENST00000372285.8:c.790G>C MANE Select	ENSP00000361359.3:p.Glu264Gln
ENST00000372276.7:c.*116G>C	ENSP00000361350.3:n.*116G>C
ENST00000372285.7:c.790G>C	ENSP00000361359.3:p.Glu264Gln
ENST00000466205.5:c.692G>C
ENST00000477696.5:n.763G>C
ENST00000489304.5:n.866G>C
ENST00000620709.4:c.*337G>C	ENSP00000484074.1:n.*337G>C
NM_001250.5:c.790G>C	NP_001241.1:p.Glu264Gln
NM_001302753.1:c.*116G>C	NP_001289682.1:n.*116G>C
NM_152854.3:c.*116G>C	NP_690593.1:n.*116G>C
NR_126502.1:n.883G>C
XM_005260617.2:c.802G>C	XP_005260674.1:p.Glu268Gln
XM_005260619.2:c.646G>C	XP_005260676.1:p.Glu216Gln
XR_936660.1:n.790G>C
NM_001322421.1:c.802G>C	NP_001309350.1:p.Glu268Gln
NM_001322422.1:c.634G>C	NP_001309351.1:p.Glu212Gln
NM_001362758.1:c.*116G>C	NP_001349687.1:n.*116G>C
NR_136327.1:n.786G>C
XM_005260619.3:c.646G>C	XP_005260676.1:p.Glu216Gln
XM_017028135.1:c.825G>C	XP_016883624.1:p.Arg275Ser
XM_017028136.1:c.723G>C	XP_016883625.1:p.Arg241Ser
NM_001250.6:c.790G>C MANE Select	NP_001241.1:p.Glu264Gln
NM_001302753.2:c.*116G>C	NP_001289682.1:n.*116G>C
NM_001322421.2:c.802G>C	NP_001309350.1:p.Glu268Gln
NM_001322422.2:c.634G>C	NP_001309351.1:p.Glu212Gln
NM_001362758.2:c.*116G>C	NP_001349687.1:n.*116G>C
NM_152854.4:c.*116G>C	NP_690593.1:n.*116G>C
NR_126502.2:n.823G>C
NR_136327.2:n.726G>C