Canonical Allele Identifier: CA10605091
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 285369
ClinVar RCV Id: RCV000313270
dbSNP Id: rs886043086
MyVariant Identifiers: chr14:g.21863195dupA (hg19) chr14:g.21395036dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21395036dup , CM000676.2:g.21395036dup GRCh38
NC_000014.8:g.21863195dup , CM000676.1:g.21863195dup GRCh37
NC_000014.7:g.20933035dup NCBI36
NG_021249.1:g.47263dup

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.4429dup ENSP00000406288.3:p.Tyr1477LeufsTer26
ENST00000555935.2:c.2966dup
ENST00000555962.6:c.*651dup ENSP00000495174.1:n.*651dup
ENST00000557364.6:c.5266dup ENSP00000451601.1:p.Tyr1756LeufsTer26
ENST00000643469.1:c.5266dup ENSP00000495070.1:p.Tyr1756LeufsTer26
ENST00000645206.1:n.4422dup
ENST00000645929.1:c.4429dup ENSP00000494402.1:p.Tyr1477LeufsTer26
ENST00000646340.1:c.5272dup ENSP00000496730.1:p.Tyr1758LeufsTer26
ENST00000646647.2:c.5266dup MANE Select ENSP00000495240.1:p.Tyr1756LeufsTer26
ENST00000399982.6:c.5266dup ENSP00000382863.2:p.Tyr1756LeufsTer26
ENST00000430710.7:c.4429dup ENSP00000406288.3:p.Tyr1477LeufsTer26
ENST00000555962.5:n.1220dup
ENST00000557364.5:c.5266dup ENSP00000451601.1:p.Tyr1756LeufsTer26
NM_001170629.1:c.5266dup NP_001164100.1:p.Tyr1756LeufsTer26
NM_020920.3:c.4429dup NP_065971.2:p.Tyr1477LeufsTer26
NM_001170629.2:c.5266dup MANE Select NP_001164100.1:p.Tyr1756LeufsTer26
NM_020920.4:c.4429dup NP_065971.2:p.Tyr1477LeufsTer26
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