Canonical Allele Identifier: CA9888527

Gene: CD40

Linked Data

• dbSNP Id: rs748519791
• ExAC: 20:44756802 G / C
• gnomAD v2: 20-44756802-G-C
• gnomAD v3: 20-46128163-G-C
• gnomAD v4: 20-46128163-G-C
• MyVariant Identifiers: chr20:g.44756802G>C (hg19) ; chr20:g.46128163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128163G>C , CM000682.2:g.46128163G>C	GRCh38
NC_000020.10:g.44756802G>C , CM000682.1:g.44756802G>C	GRCh37
NC_000020.9:g.44190209G>C	NCBI36
NG_007279.1:g.14897G>C , LRG_40:g.14897G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.587G>C	ENSP00000512095.1:n.587G>C
ENST00000489304.6:c.668G>C	ENSP00000512096.1:n.668G>C
ENST00000695670.1:n.554G>C
ENST00000695671.1:c.625G>C	ENSP00000512093.1:p.Gly209Arg
ENST00000695674.1:n.1064G>C
ENST00000695675.1:n.2461G>C
ENST00000372285.8:c.585G>C MANE Select	ENSP00000361359.3:p.Leu195=
ENST00000372276.7:c.523G>C	ENSP00000361350.3:p.Gly175Arg
ENST00000372285.7:c.585G>C	ENSP00000361359.3:p.Leu195=
ENST00000466205.5:c.487G>C
ENST00000477696.5:n.558G>C
ENST00000489304.5:n.661G>C
ENST00000620709.4:c.*132G>C	ENSP00000484074.1:n.*132G>C
NM_001250.5:c.585G>C	NP_001241.1:p.Leu195=
NM_001302753.1:c.625G>C	NP_001289682.1:p.Gly209Arg
NM_152854.3:c.523G>C	NP_690593.1:p.Gly175Arg
NR_126502.1:n.678G>C
XM_005260617.2:c.585G>C	XP_005260674.1:p.Leu195=
XM_005260619.2:c.429G>C	XP_005260676.1:p.Leu143=
XR_936660.1:n.585G>C
NM_001322421.1:c.585G>C	NP_001309350.1:p.Leu195=
NM_001322422.1:c.429G>C	NP_001309351.1:p.Leu143=
NM_001362758.1:c.585G>C	NP_001349687.1:p.Leu195=
NR_136327.1:n.581G>C
XM_005260619.3:c.429G>C	XP_005260676.1:p.Leu143=
XM_017028135.1:c.625G>C	XP_016883624.1:p.Gly209Arg
XM_017028136.1:c.523G>C	XP_016883625.1:p.Gly175Arg
NM_001250.6:c.585G>C MANE Select	NP_001241.1:p.Leu195=
NM_001302753.2:c.625G>C	NP_001289682.1:p.Gly209Arg
NM_001322421.2:c.585G>C	NP_001309350.1:p.Leu195=
NM_001322422.2:c.429G>C	NP_001309351.1:p.Leu143=
NM_001362758.2:c.585G>C	NP_001349687.1:p.Leu195=
NM_152854.4:c.523G>C	NP_690593.1:p.Gly175Arg
NR_126502.2:n.618G>C
NR_136327.2:n.521G>C