Canonical Allele Identifier: CA10588571

Gene: CHD8

Linked Data

• ClinVar Variation Id: 265642
• ClinVar RCV Id: RCV000255911 ; RCV001265459
• dbSNP Id: rs886039692
• MyVariant Identifiers: chr14:g.21878029del (hg19) ; chr14:g.21409870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409870del , CM000676.2:g.21409870del	GRCh38
NC_000014.8:g.21878029del , CM000676.1:g.21878029del	GRCh37
NC_000014.7:g.20947869del	NCBI36
NG_021249.1:g.32429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1508del	ENSP00000406288.3:p.His503ProfsTer7
ENST00000555935.2:c.21del
ENST00000555962.6:c.-110-6828del	ENSP00000495174.1:n.-110-6828del
ENST00000557364.6:c.2345del	ENSP00000451601.1:p.His782ProfsTer7
ENST00000643469.1:c.2345del	ENSP00000495070.1:p.His782ProfsTer7
ENST00000645140.1:c.2257del
ENST00000645206.1:n.859del
ENST00000645929.1:c.1508del	ENSP00000494402.1:p.His503ProfsTer7
ENST00000646340.1:c.2351del	ENSP00000496730.1:p.His784ProfsTer7
ENST00000646647.2:c.2345del MANE Select	ENSP00000495240.1:p.His782ProfsTer7
ENST00000399982.6:c.2345del	ENSP00000382863.2:p.His782ProfsTer7
ENST00000430710.7:c.1508del	ENSP00000406288.3:p.His503ProfsTer7
ENST00000554384.1:n.213del
ENST00000555935.1:c.21del
ENST00000555962.5:n.151-6828del
ENST00000557364.5:c.2345del	ENSP00000451601.1:p.His782ProfsTer7
NM_001170629.1:c.2345del	NP_001164100.1:p.His782ProfsTer7
NM_020920.3:c.1508del	NP_065971.2:p.His503ProfsTer7
NM_001170629.2:c.2345del MANE Select	NP_001164100.1:p.His782ProfsTer7
NM_020920.4:c.1508del	NP_065971.2:p.His503ProfsTer7