Canonical Allele Identifier: CA409209053

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44756795G>T (hg19) ; chr20:g.46128156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128156G>T , CM000682.2:g.46128156G>T	GRCh38
NC_000020.10:g.44756795G>T , CM000682.1:g.44756795G>T	GRCh37
NC_000020.9:g.44190202G>T	NCBI36
NG_007279.1:g.14890G>T , LRG_40:g.14890G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.580G>T	ENSP00000512095.1:n.580G>T
ENST00000489304.6:c.661G>T	ENSP00000512096.1:n.661G>T
ENST00000695670.1:n.547G>T
ENST00000695671.1:c.618G>T	ENSP00000512093.1:p.Glu206Asp
ENST00000695674.1:n.1057G>T
ENST00000695675.1:n.2454G>T
ENST00000372285.8:c.578G>T MANE Select	ENSP00000361359.3:p.Arg193Ile
ENST00000372276.7:c.516G>T	ENSP00000361350.3:p.Glu172Asp
ENST00000372285.7:c.578G>T	ENSP00000361359.3:p.Arg193Ile
ENST00000466205.5:c.480G>T
ENST00000477696.5:n.551G>T
ENST00000489304.5:n.654G>T
ENST00000620709.4:c.*125G>T	ENSP00000484074.1:n.*125G>T
NM_001250.5:c.578G>T	NP_001241.1:p.Arg193Ile
NM_001302753.1:c.618G>T	NP_001289682.1:p.Glu206Asp
NM_152854.3:c.516G>T	NP_690593.1:p.Glu172Asp
NR_126502.1:n.671G>T
XM_005260617.2:c.578G>T	XP_005260674.1:p.Arg193Ile
XM_005260619.2:c.422G>T	XP_005260676.1:p.Arg141Ile
XR_936660.1:n.578G>T
NM_001322421.1:c.578G>T	NP_001309350.1:p.Arg193Ile
NM_001322422.1:c.422G>T	NP_001309351.1:p.Arg141Ile
NM_001362758.1:c.578G>T	NP_001349687.1:p.Arg193Ile
NR_136327.1:n.574G>T
XM_005260619.3:c.422G>T	XP_005260676.1:p.Arg141Ile
XM_017028135.1:c.618G>T	XP_016883624.1:p.Glu206Asp
XM_017028136.1:c.516G>T	XP_016883625.1:p.Glu172Asp
NM_001250.6:c.578G>T MANE Select	NP_001241.1:p.Arg193Ile
NM_001302753.2:c.618G>T	NP_001289682.1:p.Glu206Asp
NM_001322421.2:c.578G>T	NP_001309350.1:p.Arg193Ile
NM_001322422.2:c.422G>T	NP_001309351.1:p.Arg141Ile
NM_001362758.2:c.578G>T	NP_001349687.1:p.Arg193Ile
NM_152854.4:c.516G>T	NP_690593.1:p.Glu172Asp
NR_126502.2:n.611G>T
NR_136327.2:n.514G>T