Canonical Allele Identifier: CA636177189

Gene: CD40

Linked Data

• dbSNP Id: rs1195099549
• gnomAD v2: 20-44757430-CT-C
• gnomAD v4: 20-46128791-CT-C
• MyVariant Identifiers: chr20:g.44757431del (hg19) ; chr20:g.46128792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128793del , CM000682.2:g.46128793del	GRCh38
NC_000020.10:g.44757432del , CM000682.1:g.44757432del	GRCh37
NC_000020.9:g.44190839del	NCBI36
NG_007279.1:g.15527del , LRG_40:g.15527del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.678-89del	ENSP00000512095.1:n.678-89del
ENST00000489304.6:c.759-89del	ENSP00000512096.1:n.759-89del
ENST00000695675.1:n.2552-89del
ENST00000372285.8:c.676-89del MANE Select	ENSP00000361359.3:n.676-89del
ENST00000372276.7:c.*2-89del	ENSP00000361350.3:n.*2-89del
ENST00000372285.7:c.676-89del	ENSP00000361359.3:n.676-89del
ENST00000466205.5:c.578-89del
ENST00000477696.5:n.649-89del
ENST00000489304.5:n.752-89del
ENST00000620709.4:c.*223-89del	ENSP00000484074.1:n.*223-89del
NM_001250.5:c.676-89del	NP_001241.1:n.676-89del
NM_001302753.1:c.*2-89del	NP_001289682.1:n.*2-89del
NM_152854.3:c.*2-89del	NP_690593.1:n.*2-89del
NR_126502.1:n.769-89del
XM_005260617.2:c.688-89del	XP_005260674.1:n.688-89del
XM_005260619.2:c.532-89del	XP_005260676.1:n.532-89del
XR_936660.1:n.676-89del
NM_001322421.1:c.688-89del	NP_001309350.1:n.688-89del
NM_001322422.1:c.520-89del	NP_001309351.1:n.520-89del
NM_001362758.1:c.*2-89del	NP_001349687.1:n.*2-89del
NR_136327.1:n.672-89del
XM_005260619.3:c.532-89del	XP_005260676.1:n.532-89del
XM_017028135.1:c.711-89del	XP_016883624.1:n.711-89del
XM_017028136.1:c.609-89del	XP_016883625.1:n.609-89del
NM_001250.6:c.676-89del MANE Select	NP_001241.1:n.676-89del
NM_001302753.2:c.*2-89del	NP_001289682.1:n.*2-89del
NM_001322421.2:c.688-89del	NP_001309350.1:n.688-89del
NM_001322422.2:c.520-89del	NP_001309351.1:n.520-89del
NM_001362758.2:c.*2-89del	NP_001349687.1:n.*2-89del
NM_152854.4:c.*2-89del	NP_690593.1:n.*2-89del
NR_126502.2:n.709-89del
NR_136327.2:n.612-89del