Canonical Allele Identifier: CA409212433

Gene: CD40

Linked Data

• gnomAD v4: 20-46129030-A-C
• MyVariant Identifiers: chr20:g.44757669A>C (hg19) ; chr20:g.46129030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129030A>C , CM000682.2:g.46129030A>C	GRCh38
NC_000020.10:g.44757669A>C , CM000682.1:g.44757669A>C	GRCh37
NC_000020.9:g.44191076A>C	NCBI36
NG_007279.1:g.15764A>C , LRG_40:g.15764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.907A>C	ENSP00000512096.1:n.907A>C
ENST00000695675.1:n.2700A>C
ENST00000372285.8:c.824A>C MANE Select	ENSP00000361359.3:p.Glu275Ala
ENST00000372276.7:c.*150A>C	ENSP00000361350.3:n.*150A>C
ENST00000372285.7:c.824A>C	ENSP00000361359.3:p.Glu275Ala
ENST00000466205.5:c.726A>C
ENST00000489304.5:n.900A>C
ENST00000620709.4:c.*371A>C	ENSP00000484074.1:n.*371A>C
NM_001250.5:c.824A>C	NP_001241.1:p.Glu275Ala
NM_001302753.1:c.*150A>C	NP_001289682.1:n.*150A>C
NM_152854.3:c.*150A>C	NP_690593.1:n.*150A>C
NR_126502.1:n.917A>C
XM_005260617.2:c.836A>C	XP_005260674.1:p.Glu279Ala
XM_005260619.2:c.680A>C	XP_005260676.1:p.Glu227Ala
XR_936660.1:n.824A>C
NM_001322421.1:c.836A>C	NP_001309350.1:p.Glu279Ala
NM_001322422.1:c.668A>C	NP_001309351.1:p.Glu223Ala
NM_001362758.1:c.*150A>C	NP_001349687.1:n.*150A>C
NR_136327.1:n.820A>C
XM_005260619.3:c.680A>C	XP_005260676.1:p.Glu227Ala
XM_017028135.1:c.859A>C	XP_016883624.1:p.Arg287=
XM_017028136.1:c.757A>C	XP_016883625.1:p.Arg253=
NM_001250.6:c.824A>C MANE Select	NP_001241.1:p.Glu275Ala
NM_001302753.2:c.*150A>C	NP_001289682.1:n.*150A>C
NM_001322421.2:c.836A>C	NP_001309350.1:p.Glu279Ala
NM_001322422.2:c.668A>C	NP_001309351.1:p.Glu223Ala
NM_001362758.2:c.*150A>C	NP_001349687.1:n.*150A>C
NM_152854.4:c.*150A>C	NP_690593.1:n.*150A>C
NR_126502.2:n.857A>C
NR_136327.2:n.760A>C