Canonical Allele Identifier: CA204599
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 208647
ClinVar RCV Id: RCV000190654
dbSNP Id: rs797044853
MyVariant Identifiers: chr14:g.21875087_21875091del (hg19) chr14:g.21406928_21406932del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21406931_21406935del , CM000676.2:g.21406931_21406935del GRCh38
NC_000014.8:g.21875090_21875094del , CM000676.1:g.21875090_21875094del GRCh37
NC_000014.7:g.20944930_20944934del NCBI36
NG_021249.1:g.35367_35371del

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1994_1998del ENSP00000406288.3:p.Cys665TyrfsTer3
ENST00000555935.2:c.507_511del
ENST00000555962.6:c.-110-3890_-110-3886del ENSP00000495174.1:n.-110-3890_-110-3886de...
ENST00000557364.6:c.2831_2835del ENSP00000451601.1:p.Cys944TyrfsTer3
ENST00000643469.1:c.2831_2835del ENSP00000495070.1:p.Cys944TyrfsTer3
ENST00000645140.1:c.2743_2747del
ENST00000645206.1:n.1345_1349del
ENST00000645929.1:c.1994_1998del ENSP00000494402.1:p.Cys665TyrfsTer3
ENST00000646340.1:c.2837_2841del ENSP00000496730.1:p.Cys946TyrfsTer3
ENST00000646647.2:c.2831_2835del MANE Select ENSP00000495240.1:p.Cys944TyrfsTer3
ENST00000399982.6:c.2831_2835del ENSP00000382863.2:p.Cys944TyrfsTer3
ENST00000430710.7:c.1994_1998del ENSP00000406288.3:p.Cys665TyrfsTer3
ENST00000555935.1:c.507_511del
ENST00000555962.5:n.151-3890_151-3886del
ENST00000557364.5:c.2831_2835del ENSP00000451601.1:p.Cys944TyrfsTer3
NM_001170629.1:c.2831_2835del NP_001164100.1:p.Cys944TyrfsTer3
NM_020920.3:c.1994_1998del NP_065971.2:p.Cys665TyrfsTer3
NM_001170629.2:c.2831_2835del MANE Select NP_001164100.1:p.Cys944TyrfsTer3
NM_020920.4:c.1994_1998del NP_065971.2:p.Cys665TyrfsTer3
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