Canonical Allele Identifier: CA636177185

Gene: CD40

Linked Data

• dbSNP Id: rs1280603783
• gnomAD v2: 20-44757419-AG-A
• gnomAD v3: 20-46128780-AG-A
• gnomAD v4: 20-46128780-AG-A
• MyVariant Identifiers: chr20:g.44757420del (hg19) ; chr20:g.46128781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128786del , CM000682.2:g.46128786del	GRCh38
NC_000020.10:g.44757425del , CM000682.1:g.44757425del	GRCh37
NC_000020.9:g.44190832del	NCBI36
NG_007279.1:g.15520del , LRG_40:g.15520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.678-96del	ENSP00000512095.1:n.678-96del
ENST00000489304.6:c.759-96del	ENSP00000512096.1:n.759-96del
ENST00000695675.1:n.2552-96del
ENST00000372285.8:c.676-96del MANE Select	ENSP00000361359.3:n.676-96del
ENST00000372276.7:c.*2-96del	ENSP00000361350.3:n.*2-96del
ENST00000372285.7:c.676-96del	ENSP00000361359.3:n.676-96del
ENST00000466205.5:c.578-96del
ENST00000477696.5:n.649-96del
ENST00000489304.5:n.752-96del
ENST00000620709.4:c.*223-96del	ENSP00000484074.1:n.*223-96del
NM_001250.5:c.676-96del	NP_001241.1:n.676-96del
NM_001302753.1:c.*2-96del	NP_001289682.1:n.*2-96del
NM_152854.3:c.*2-96del	NP_690593.1:n.*2-96del
NR_126502.1:n.769-96del
XM_005260617.2:c.688-96del	XP_005260674.1:n.688-96del
XM_005260619.2:c.532-96del	XP_005260676.1:n.532-96del
XR_936660.1:n.676-96del
NM_001322421.1:c.688-96del	NP_001309350.1:n.688-96del
NM_001322422.1:c.520-96del	NP_001309351.1:n.520-96del
NM_001362758.1:c.*2-96del	NP_001349687.1:n.*2-96del
NR_136327.1:n.672-96del
XM_005260619.3:c.532-96del	XP_005260676.1:n.532-96del
XM_017028135.1:c.711-96del	XP_016883624.1:n.711-96del
XM_017028136.1:c.609-96del	XP_016883625.1:n.609-96del
NM_001250.6:c.676-96del MANE Select	NP_001241.1:n.676-96del
NM_001302753.2:c.*2-96del	NP_001289682.1:n.*2-96del
NM_001322421.2:c.688-96del	NP_001309350.1:n.688-96del
NM_001322422.2:c.520-96del	NP_001309351.1:n.520-96del
NM_001362758.2:c.*2-96del	NP_001349687.1:n.*2-96del
NM_152854.4:c.*2-96del	NP_690593.1:n.*2-96del
NR_126502.2:n.709-96del
NR_136327.2:n.612-96del