Canonical Allele Identifier: CA960917238

Gene: CHD8

Linked Data

• dbSNP Id: rs1888681546
• gnomAD v3: 14-21415537-AT-A
• gnomAD v4: 14-21415537-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415538del , CM000676.2:g.21415538del	GRCh38
NC_000014.8:g.21883697del , CM000676.1:g.21883697del	GRCh37
NC_000014.7:g.20953537del	NCBI36
NG_021249.1:g.26761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+36del	ENSP00000406288.3:n.1131+36del
ENST00000555962.6:c.-110-12496del	ENSP00000495174.1:n.-110-12496del
ENST00000557364.6:c.1968+36del	ENSP00000451601.1:n.1968+36del
ENST00000642914.1:n.987del
ENST00000643469.1:c.1968+36del	ENSP00000495070.1:n.1968+36del
ENST00000645140.1:c.1880+36del
ENST00000645206.1:n.482+36del
ENST00000645929.1:c.1131+36del	ENSP00000494402.1:n.1131+36del
ENST00000646340.1:c.1974+36del	ENSP00000496730.1:n.1974+36del
ENST00000646647.2:c.1968+36del MANE Select	ENSP00000495240.1:n.1968+36del
ENST00000399982.6:c.1968+36del	ENSP00000382863.2:n.1968+36del
ENST00000430710.7:c.1131+36del	ENSP00000406288.3:n.1131+36del
ENST00000555962.5:n.151-12496del
ENST00000557364.5:c.1968+36del	ENSP00000451601.1:n.1968+36del
NM_001170629.1:c.1968+36del	NP_001164100.1:n.1968+36del
NM_020920.3:c.1131+36del	NP_065971.2:n.1131+36del
NM_001170629.2:c.1968+36del MANE Select	NP_001164100.1:n.1968+36del
NM_020920.4:c.1131+36del	NP_065971.2:n.1131+36del