Canonical Allele Identifier: CA409212370

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757662G>C (hg19) ; chr20:g.46129023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129023G>C , CM000682.2:g.46129023G>C	GRCh38
NC_000020.10:g.44757662G>C , CM000682.1:g.44757662G>C	GRCh37
NC_000020.9:g.44191069G>C	NCBI36
NG_007279.1:g.15757G>C , LRG_40:g.15757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.900G>C	ENSP00000512096.1:n.900G>C
ENST00000695675.1:n.2693G>C
ENST00000372285.8:c.817G>C MANE Select	ENSP00000361359.3:p.Val273Leu
ENST00000372276.7:c.*143G>C	ENSP00000361350.3:n.*143G>C
ENST00000372285.7:c.817G>C	ENSP00000361359.3:p.Val273Leu
ENST00000466205.5:c.719G>C
ENST00000489304.5:n.893G>C
ENST00000620709.4:c.*364G>C	ENSP00000484074.1:n.*364G>C
NM_001250.5:c.817G>C	NP_001241.1:p.Val273Leu
NM_001302753.1:c.*143G>C	NP_001289682.1:n.*143G>C
NM_152854.3:c.*143G>C	NP_690593.1:n.*143G>C
NR_126502.1:n.910G>C
XM_005260617.2:c.829G>C	XP_005260674.1:p.Val277Leu
XM_005260619.2:c.673G>C	XP_005260676.1:p.Val225Leu
XR_936660.1:n.817G>C
NM_001322421.1:c.829G>C	NP_001309350.1:p.Val277Leu
NM_001322422.1:c.661G>C	NP_001309351.1:p.Val221Leu
NM_001362758.1:c.*143G>C	NP_001349687.1:n.*143G>C
NR_136327.1:n.813G>C
XM_005260619.3:c.673G>C	XP_005260676.1:p.Val225Leu
XM_017028135.1:c.852G>C	XP_016883624.1:p.Gln284His
XM_017028136.1:c.750G>C	XP_016883625.1:p.Gln250His
NM_001250.6:c.817G>C MANE Select	NP_001241.1:p.Val273Leu
NM_001302753.2:c.*143G>C	NP_001289682.1:n.*143G>C
NM_001322421.2:c.829G>C	NP_001309350.1:p.Val277Leu
NM_001322422.2:c.661G>C	NP_001309351.1:p.Val221Leu
NM_001362758.2:c.*143G>C	NP_001349687.1:n.*143G>C
NM_152854.4:c.*143G>C	NP_690593.1:n.*143G>C
NR_126502.2:n.850G>C
NR_136327.2:n.753G>C