Canonical Allele Identifier: CA2653133989

Gene: CD40

Linked Data

• gnomAD v4: 20-46129101-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129113_46129115dup , CM000682.2:g.46129113_46129115dup	GRCh38
NC_000020.10:g.44757752_44757754dup , CM000682.1:g.44757752_44757754dup	GRCh37
NC_000020.9:g.44191159_44191161dup	NCBI36
NG_007279.1:g.15847_15849dup , LRG_40:g.15847_15849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.990_992dup	ENSP00000512096.1:n.990_992dup
ENST00000695675.1:n.2783_2785dup
ENST00000372285.8:c.*73_*75dup MANE Select	ENSP00000361359.3:n.*73_*75dup
ENST00000372276.7:c.*233_*235dup	ENSP00000361350.3:n.*233_*235dup
ENST00000372285.7:c.*73_*75dup	ENSP00000361359.3:n.*73_*75dup
ENST00000466205.5:c.809_811dup
ENST00000489304.5:n.983_985dup
ENST00000620709.4:c.*454_*456dup	ENSP00000484074.1:n.*454_*456dup
NM_001250.5:c.*73_*75dup	NP_001241.1:n.*73_*75dup
NM_001302753.1:c.*233_*235dup	NP_001289682.1:n.*233_*235dup
NM_152854.3:c.*233_*235dup	NP_690593.1:n.*233_*235dup
NR_126502.1:n.1000_1002dup
XM_005260617.2:c.*73_*75dup	XP_005260674.1:n.*73_*75dup
XM_005260619.2:c.*73_*75dup	XP_005260676.1:n.*73_*75dup
NM_001322421.1:c.*73_*75dup	NP_001309350.1:n.*73_*75dup
NM_001322422.1:c.*73_*75dup	NP_001309351.1:n.*73_*75dup
NM_001362758.1:c.*233_*235dup	NP_001349687.1:n.*233_*235dup
NR_136327.1:n.903_905dup
XM_005260619.3:c.*73_*75dup	XP_005260676.1:n.*73_*75dup
XM_017028135.1:c.942_944dup	XP_016883624.1:p.Cys315_Gly316insCys
XM_017028136.1:c.840_842dup	XP_016883625.1:p.Cys281_Gly282insCys
NM_001250.6:c.*73_*75dup MANE Select	NP_001241.1:n.*73_*75dup
NM_001302753.2:c.*233_*235dup	NP_001289682.1:n.*233_*235dup
NM_001322421.2:c.*73_*75dup	NP_001309350.1:n.*73_*75dup
NM_001322422.2:c.*73_*75dup	NP_001309351.1:n.*73_*75dup
NM_001362758.2:c.*233_*235dup	NP_001349687.1:n.*233_*235dup
NM_152854.4:c.*233_*235dup	NP_690593.1:n.*233_*235dup
NR_126502.2:n.940_942dup
NR_136327.2:n.843_845dup