Canonical Allele Identifier: CA409212324

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757656A>T (hg19) ; chr20:g.46129017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129017A>T , CM000682.2:g.46129017A>T	GRCh38
NC_000020.10:g.44757656A>T , CM000682.1:g.44757656A>T	GRCh37
NC_000020.9:g.44191063A>T	NCBI36
NG_007279.1:g.15751A>T , LRG_40:g.15751A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.894A>T	ENSP00000512096.1:n.894A>T
ENST00000695675.1:n.2687A>T
ENST00000372285.8:c.811A>T MANE Select	ENSP00000361359.3:p.Ile271Phe
ENST00000372276.7:c.*137A>T	ENSP00000361350.3:n.*137A>T
ENST00000372285.7:c.811A>T	ENSP00000361359.3:p.Ile271Phe
ENST00000466205.5:c.713A>T
ENST00000489304.5:n.887A>T
ENST00000620709.4:c.*358A>T	ENSP00000484074.1:n.*358A>T
NM_001250.5:c.811A>T	NP_001241.1:p.Ile271Phe
NM_001302753.1:c.*137A>T	NP_001289682.1:n.*137A>T
NM_152854.3:c.*137A>T	NP_690593.1:n.*137A>T
NR_126502.1:n.904A>T
XM_005260617.2:c.823A>T	XP_005260674.1:p.Ile275Phe
XM_005260619.2:c.667A>T	XP_005260676.1:p.Ile223Phe
XR_936660.1:n.811A>T
NM_001322421.1:c.823A>T	NP_001309350.1:p.Ile275Phe
NM_001322422.1:c.655A>T	NP_001309351.1:p.Ile219Phe
NM_001362758.1:c.*137A>T	NP_001349687.1:n.*137A>T
NR_136327.1:n.807A>T
XM_005260619.3:c.667A>T	XP_005260676.1:p.Ile223Phe
XM_017028135.1:c.846A>T	XP_016883624.1:p.Ala282=
XM_017028136.1:c.744A>T	XP_016883625.1:p.Ala248=
NM_001250.6:c.811A>T MANE Select	NP_001241.1:p.Ile271Phe
NM_001302753.2:c.*137A>T	NP_001289682.1:n.*137A>T
NM_001322421.2:c.823A>T	NP_001309350.1:p.Ile275Phe
NM_001322422.2:c.655A>T	NP_001309351.1:p.Ile219Phe
NM_001362758.2:c.*137A>T	NP_001349687.1:n.*137A>T
NM_152854.4:c.*137A>T	NP_690593.1:n.*137A>T
NR_126502.2:n.844A>T
NR_136327.2:n.747A>T