Canonical Allele Identifier: CA409209047

Gene: CD40

Linked Data

• gnomAD v4: 20-46128155-A-T
• MyVariant Identifiers: chr20:g.44756794A>T (hg19) ; chr20:g.46128155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128155A>T , CM000682.2:g.46128155A>T	GRCh38
NC_000020.10:g.44756794A>T , CM000682.1:g.44756794A>T	GRCh37
NC_000020.9:g.44190201A>T	NCBI36
NG_007279.1:g.14889A>T , LRG_40:g.14889A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.579A>T	ENSP00000512095.1:n.579A>T
ENST00000489304.6:c.660A>T	ENSP00000512096.1:n.660A>T
ENST00000695670.1:n.546A>T
ENST00000695671.1:c.617A>T	ENSP00000512093.1:p.Glu206Val
ENST00000695674.1:n.1056A>T
ENST00000695675.1:n.2453A>T
ENST00000372285.8:c.577A>T MANE Select	ENSP00000361359.3:p.Arg193Ter
ENST00000372276.7:c.515A>T	ENSP00000361350.3:p.Glu172Val
ENST00000372285.7:c.577A>T	ENSP00000361359.3:p.Arg193Ter
ENST00000466205.5:c.479A>T
ENST00000477696.5:n.550A>T
ENST00000489304.5:n.653A>T
ENST00000620709.4:c.*124A>T	ENSP00000484074.1:n.*124A>T
NM_001250.5:c.577A>T	NP_001241.1:p.Arg193Ter
NM_001302753.1:c.617A>T	NP_001289682.1:p.Glu206Val
NM_152854.3:c.515A>T	NP_690593.1:p.Glu172Val
NR_126502.1:n.670A>T
XM_005260617.2:c.577A>T	XP_005260674.1:p.Arg193Ter
XM_005260619.2:c.421A>T	XP_005260676.1:p.Arg141Ter
XR_936660.1:n.577A>T
NM_001322421.1:c.577A>T	NP_001309350.1:p.Arg193Ter
NM_001322422.1:c.421A>T	NP_001309351.1:p.Arg141Ter
NM_001362758.1:c.577A>T	NP_001349687.1:p.Arg193Ter
NR_136327.1:n.573A>T
XM_005260619.3:c.421A>T	XP_005260676.1:p.Arg141Ter
XM_017028135.1:c.617A>T	XP_016883624.1:p.Glu206Val
XM_017028136.1:c.515A>T	XP_016883625.1:p.Glu172Val
NM_001250.6:c.577A>T MANE Select	NP_001241.1:p.Arg193Ter
NM_001302753.2:c.617A>T	NP_001289682.1:p.Glu206Val
NM_001322421.2:c.577A>T	NP_001309350.1:p.Arg193Ter
NM_001322422.2:c.421A>T	NP_001309351.1:p.Arg141Ter
NM_001362758.2:c.577A>T	NP_001349687.1:p.Arg193Ter
NM_152854.4:c.515A>T	NP_690593.1:p.Glu172Val
NR_126502.2:n.610A>T
NR_136327.2:n.513A>T