Canonical Allele Identifier: CA16619832
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 423861
ClinVar RCV Id: RCV000481022
dbSNP Id: rs1064796666
MyVariant Identifiers: chr14:g.21859740del (hg19) chr14:g.21391581del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21391583del , CM000676.2:g.21391583del GRCh38
NC_000014.8:g.21859742del , CM000676.1:g.21859742del GRCh37
NC_000014.7:g.20929582del NCBI36
NG_021249.1:g.50718del

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.6110del ENSP00000406288.3:p.Pro2037LeufsTer?
ENST00000553870.2:c.437+252del
ENST00000555935.2:c.4647del
ENST00000557364.6:c.6947del ENSP00000451601.1:p.Pro2316LeufsTer?
ENST00000643469.1:c.6947del ENSP00000495070.1:p.Pro2316LeufsTer?
ENST00000645206.1:n.6103del
ENST00000645929.1:c.6110del ENSP00000494402.1:p.Pro2037LeufsTer?
ENST00000646647.2:c.6947del MANE Select ENSP00000495240.1:p.Pro2316LeufsTer?
ENST00000399982.6:c.6947del ENSP00000382863.2:p.Pro2316LeufsTer?
ENST00000430710.7:c.6110del ENSP00000406288.3:p.Pro2037LeufsTer?
ENST00000553870.1:c.396+252del ENSP00000451071.1:n.396+252del
ENST00000557364.5:c.6947del ENSP00000451601.1:p.Pro2316LeufsTer?
NM_001170629.1:c.6947del NP_001164100.1:p.Pro2316LeufsTer?
NM_020920.3:c.6110del NP_065971.2:p.Pro2037LeufsTer?
XR_001750627.1:n.795del
NM_001170629.2:c.6947del MANE Select NP_001164100.1:p.Pro2316LeufsTer?
NM_020920.4:c.6110del NP_065971.2:p.Pro2037LeufsTer?
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