Canonical Allele Identifier: CA510657820

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757571T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128932T>C , CM000682.2:g.46128932T>C	GRCh38
NC_000020.10:g.44757571T>C , CM000682.1:g.44757571T>C	GRCh37
NC_000020.9:g.44190978T>C	NCBI36
NG_007279.1:g.15666T>C , LRG_40:g.15666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.728T>C	ENSP00000512095.1:n.728T>C
ENST00000489304.6:c.809T>C	ENSP00000512096.1:n.809T>C
ENST00000695675.1:n.2602T>C
ENST00000372285.8:c.726T>C MANE Select	ENSP00000361359.3:p.Leu242=
ENST00000372276.7:c.*52T>C	ENSP00000361350.3:n.*52T>C
ENST00000372285.7:c.726T>C	ENSP00000361359.3:p.Leu242=
ENST00000466205.5:c.628T>C
ENST00000477696.5:n.699T>C
ENST00000489304.5:n.802T>C
ENST00000620709.4:c.*273T>C	ENSP00000484074.1:n.*273T>C
NM_001250.5:c.726T>C	NP_001241.1:p.Leu242=
NM_001302753.1:c.*52T>C	NP_001289682.1:n.*52T>C
NM_152854.3:c.*52T>C	NP_690593.1:n.*52T>C
NR_126502.1:n.819T>C
XM_005260617.2:c.738T>C	XP_005260674.1:p.Leu246=
XM_005260619.2:c.582T>C	XP_005260676.1:p.Leu194=
XR_936660.1:n.726T>C
NM_001322421.1:c.738T>C	NP_001309350.1:p.Leu246=
NM_001322422.1:c.570T>C	NP_001309351.1:p.Leu190=
NM_001362758.1:c.*52T>C	NP_001349687.1:n.*52T>C
NR_136327.1:n.722T>C
XM_005260619.3:c.582T>C	XP_005260676.1:p.Leu194=
XM_017028135.1:c.761T>C	XP_016883624.1:p.Phe254Ser
XM_017028136.1:c.659T>C	XP_016883625.1:p.Phe220Ser
NM_001250.6:c.726T>C MANE Select	NP_001241.1:p.Leu242=
NM_001302753.2:c.*52T>C	NP_001289682.1:n.*52T>C
NM_001322421.2:c.738T>C	NP_001309350.1:p.Leu246=
NM_001322422.2:c.570T>C	NP_001309351.1:p.Leu190=
NM_001362758.2:c.*52T>C	NP_001349687.1:n.*52T>C
NM_152854.4:c.*52T>C	NP_690593.1:n.*52T>C
NR_126502.2:n.759T>C
NR_136327.2:n.662T>C