Canonical Allele Identifier: CA915948883

Gene: CHD8

Linked Data

• ClinVar Variation Id: 817589
• ClinVar RCV Id: RCV001008748
• dbSNP Id: rs1594352987

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409971del , CM000676.2:g.21409971del	GRCh38
NC_000014.8:g.21878130del , CM000676.1:g.21878130del	GRCh37
NC_000014.7:g.20947970del	NCBI36
NG_021249.1:g.32329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1408del	ENSP00000406288.3:p.Val470Ter
ENST00000555962.6:c.-110-6928del	ENSP00000495174.1:n.-110-6928del
ENST00000557364.6:c.2245del	ENSP00000451601.1:p.Val749Ter
ENST00000643469.1:c.2245del	ENSP00000495070.1:p.Val749Ter
ENST00000645140.1:c.2157del
ENST00000645206.1:n.759del
ENST00000645929.1:c.1408del	ENSP00000494402.1:p.Val470Ter
ENST00000646340.1:c.2251del	ENSP00000496730.1:p.Val751Ter
ENST00000646647.2:c.2245del MANE Select	ENSP00000495240.1:p.Val749Ter
ENST00000399982.6:c.2245del	ENSP00000382863.2:p.Val749Ter
ENST00000430710.7:c.1408del	ENSP00000406288.3:p.Val470Ter
ENST00000554384.1:n.113del
ENST00000555962.5:n.151-6928del
ENST00000557364.5:c.2245del	ENSP00000451601.1:p.Val749Ter
NM_001170629.1:c.2245del	NP_001164100.1:p.Val749Ter
NM_020920.3:c.1408del	NP_065971.2:p.Val470Ter
NM_001170629.2:c.2245del MANE Select	NP_001164100.1:p.Val749Ter
NM_020920.4:c.1408del	NP_065971.2:p.Val470Ter