Canonical Allele Identifier: CA2653132131

Gene: CD40

Linked Data

• gnomAD v4: 20-46122378-A-AGGGACGCTTGGGAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122379_46122393dup , CM000682.2:g.46122379_46122393dup	GRCh38
NC_000020.10:g.44751018_44751032dup , CM000682.1:g.44751018_44751032dup	GRCh37
NC_000020.9:g.44184425_44184439dup	NCBI36
NG_007279.1:g.9113_9127dup , LRG_40:g.9113_9127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.352+21_352+35dup	ENSP00000512095.1:n.352+21_352+35dup
ENST00000489304.6:c.256+21_256+35dup	ENSP00000512096.1:n.256+21_256+35dup
ENST00000695669.1:n.329+21_329+35dup
ENST00000695670.1:n.236+21_236+35dup
ENST00000695671.1:c.256+21_256+35dup	ENSP00000512093.1:n.256+21_256+35dup
ENST00000695672.1:n.181+21_181+35dup
ENST00000695673.1:n.121+21_121+35dup
ENST00000372285.8:c.256+21_256+35dup MANE Select	ENSP00000361359.3:n.256+21_256+35dup
ENST00000372276.7:c.256+21_256+35dup	ENSP00000361350.3:n.256+21_256+35dup
ENST00000372285.7:c.256+21_256+35dup	ENSP00000361359.3:n.256+21_256+35dup
ENST00000461171.1:n.41+21_41+35dup
ENST00000466205.5:c.252+21_252+35dup
ENST00000477696.5:n.323+21_323+35dup
ENST00000489304.5:n.249+21_249+35dup
ENST00000620709.4:c.256+21_256+35dup	ENSP00000484074.1:n.256+21_256+35dup
NM_001250.5:c.256+21_256+35dup	NP_001241.1:n.256+21_256+35dup
NM_001302753.1:c.256+21_256+35dup	NP_001289682.1:n.256+21_256+35dup
NM_152854.3:c.256+21_256+35dup	NP_690593.1:n.256+21_256+35dup
NR_126502.1:n.346+21_346+35dup
XM_005260617.2:c.256+21_256+35dup	XP_005260674.1:n.256+21_256+35dup
XM_005260619.2:c.256+21_256+35dup	XP_005260676.1:n.256+21_256+35dup
XM_011529109.1:c.256+21_256+35dup	XP_011527411.1:n.256+21_256+35dup
XR_936660.1:n.350+21_350+35dup
NM_001322421.1:c.256+21_256+35dup	NP_001309350.1:n.256+21_256+35dup
NM_001322422.1:c.256+21_256+35dup	NP_001309351.1:n.256+21_256+35dup
NM_001362758.1:c.256+21_256+35dup	NP_001349687.1:n.256+21_256+35dup
NR_136327.1:n.346+21_346+35dup
XM_005260619.3:c.256+21_256+35dup	XP_005260676.1:n.256+21_256+35dup
XM_011529109.2:c.256+21_256+35dup	XP_011527411.1:n.256+21_256+35dup
XM_017028135.1:c.256+21_256+35dup	XP_016883624.1:n.256+21_256+35dup
XM_017028136.1:c.256+21_256+35dup	XP_016883625.1:n.256+21_256+35dup
NM_001250.6:c.256+21_256+35dup MANE Select	NP_001241.1:n.256+21_256+35dup
NM_001302753.2:c.256+21_256+35dup	NP_001289682.1:n.256+21_256+35dup
NM_001322421.2:c.256+21_256+35dup	NP_001309350.1:n.256+21_256+35dup
NM_001322422.2:c.256+21_256+35dup	NP_001309351.1:n.256+21_256+35dup
NM_001362758.2:c.256+21_256+35dup	NP_001349687.1:n.256+21_256+35dup
NM_152854.4:c.256+21_256+35dup	NP_690593.1:n.256+21_256+35dup
NR_126502.2:n.286+21_286+35dup
NR_136327.2:n.286+21_286+35dup