Canonical Allele Identifier: CA409212204

Gene: CD40

Linked Data

• gnomAD v4: 20-46128998-G-C
• MyVariant Identifiers: chr20:g.44757637G>C (hg19) ; chr20:g.46128998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128998G>C , CM000682.2:g.46128998G>C	GRCh38
NC_000020.10:g.44757637G>C , CM000682.1:g.44757637G>C	GRCh37
NC_000020.9:g.44191044G>C	NCBI36
NG_007279.1:g.15732G>C , LRG_40:g.15732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.794G>C	ENSP00000512095.1:n.794G>C
ENST00000489304.6:c.875G>C	ENSP00000512096.1:n.875G>C
ENST00000695675.1:n.2668G>C
ENST00000372285.8:c.792G>C MANE Select	ENSP00000361359.3:p.Glu264Asp
ENST00000372276.7:c.*118G>C	ENSP00000361350.3:n.*118G>C
ENST00000372285.7:c.792G>C	ENSP00000361359.3:p.Glu264Asp
ENST00000466205.5:c.694G>C
ENST00000477696.5:n.765G>C
ENST00000489304.5:n.868G>C
ENST00000620709.4:c.*339G>C	ENSP00000484074.1:n.*339G>C
NM_001250.5:c.792G>C	NP_001241.1:p.Glu264Asp
NM_001302753.1:c.*118G>C	NP_001289682.1:n.*118G>C
NM_152854.3:c.*118G>C	NP_690593.1:n.*118G>C
NR_126502.1:n.885G>C
XM_005260617.2:c.804G>C	XP_005260674.1:p.Glu268Asp
XM_005260619.2:c.648G>C	XP_005260676.1:p.Glu216Asp
XR_936660.1:n.792G>C
NM_001322421.1:c.804G>C	NP_001309350.1:p.Glu268Asp
NM_001322422.1:c.636G>C	NP_001309351.1:p.Glu212Asp
NM_001362758.1:c.*118G>C	NP_001349687.1:n.*118G>C
NR_136327.1:n.788G>C
XM_005260619.3:c.648G>C	XP_005260676.1:p.Glu216Asp
XM_017028135.1:c.827G>C	XP_016883624.1:p.Arg276Thr
XM_017028136.1:c.725G>C	XP_016883625.1:p.Arg242Thr
NM_001250.6:c.792G>C MANE Select	NP_001241.1:p.Glu264Asp
NM_001302753.2:c.*118G>C	NP_001289682.1:n.*118G>C
NM_001322421.2:c.804G>C	NP_001309350.1:p.Glu268Asp
NM_001322422.2:c.636G>C	NP_001309351.1:p.Glu212Asp
NM_001362758.2:c.*118G>C	NP_001349687.1:n.*118G>C
NM_152854.4:c.*118G>C	NP_690593.1:n.*118G>C
NR_126502.2:n.825G>C
NR_136327.2:n.728G>C