Canonical Allele Identifier: CA409211721

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757557T>C (hg19) ; chr20:g.46128918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128918T>C , CM000682.2:g.46128918T>C	GRCh38
NC_000020.10:g.44757557T>C , CM000682.1:g.44757557T>C	GRCh37
NC_000020.9:g.44190964T>C	NCBI36
NG_007279.1:g.15652T>C , LRG_40:g.15652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.714T>C	ENSP00000512095.1:n.714T>C
ENST00000489304.6:c.795T>C	ENSP00000512096.1:n.795T>C
ENST00000695675.1:n.2588T>C
ENST00000372285.8:c.712T>C MANE Select	ENSP00000361359.3:p.Phe238Leu
ENST00000372276.7:c.*38T>C	ENSP00000361350.3:n.*38T>C
ENST00000372285.7:c.712T>C	ENSP00000361359.3:p.Phe238Leu
ENST00000466205.5:c.614T>C
ENST00000477696.5:n.685T>C
ENST00000489304.5:n.788T>C
ENST00000620709.4:c.*259T>C	ENSP00000484074.1:n.*259T>C
NM_001250.5:c.712T>C	NP_001241.1:p.Phe238Leu
NM_001302753.1:c.*38T>C	NP_001289682.1:n.*38T>C
NM_152854.3:c.*38T>C	NP_690593.1:n.*38T>C
NR_126502.1:n.805T>C
XM_005260617.2:c.724T>C	XP_005260674.1:p.Phe242Leu
XM_005260619.2:c.568T>C	XP_005260676.1:p.Phe190Leu
XR_936660.1:n.712T>C
NM_001322421.1:c.724T>C	NP_001309350.1:p.Phe242Leu
NM_001322422.1:c.556T>C	NP_001309351.1:p.Phe186Leu
NM_001362758.1:c.*38T>C	NP_001349687.1:n.*38T>C
NR_136327.1:n.708T>C
XM_005260619.3:c.568T>C	XP_005260676.1:p.Phe190Leu
XM_017028135.1:c.747T>C	XP_016883624.1:p.Ile249=
XM_017028136.1:c.645T>C	XP_016883625.1:p.Ile215=
NM_001250.6:c.712T>C MANE Select	NP_001241.1:p.Phe238Leu
NM_001302753.2:c.*38T>C	NP_001289682.1:n.*38T>C
NM_001322421.2:c.724T>C	NP_001309350.1:p.Phe242Leu
NM_001322422.2:c.556T>C	NP_001309351.1:p.Phe186Leu
NM_001362758.2:c.*38T>C	NP_001349687.1:n.*38T>C
NM_152854.4:c.*38T>C	NP_690593.1:n.*38T>C
NR_126502.2:n.745T>C
NR_136327.2:n.648T>C