Canonical Allele Identifier: CA612363641

Gene: CHD8

Linked Data

• dbSNP Id: rs1268054287
• gnomAD v2: 14-21883703-A-AAT
• gnomAD v3: 14-21415544-A-AAT
• gnomAD v4: 14-21415544-A-AAT
• MyVariant Identifiers: chr14:g.21883703_21883704insAT (hg19) ; chr14:g.21415544_21415545insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415545_21415546insTA , CM000676.2:g.21415545_21415546insTA	GRCh38
NC_000014.8:g.21883704_21883705insTA , CM000676.1:g.21883704_21883705insTA	GRCh37
NC_000014.7:g.20953544_20953545insTA	NCBI36
NG_021249.1:g.26754_26755insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+29_1131+30insAT	ENSP00000406288.3:n.1131+29_1131+30insAT
ENST00000555962.6:c.-110-12503_-110-12502insAT	ENSP00000495174.1:n.-110-12503_-110-12502insAT
ENST00000557364.6:c.1968+29_1968+30insAT	ENSP00000451601.1:n.1968+29_1968+30insAT
ENST00000642914.1:n.980_981insAT
ENST00000643469.1:c.1968+29_1968+30insAT	ENSP00000495070.1:n.1968+29_1968+30insAT
ENST00000645140.1:c.1880+29_1880+30insAT
ENST00000645206.1:n.482+29_482+30insAT
ENST00000645929.1:c.1131+29_1131+30insAT	ENSP00000494402.1:n.1131+29_1131+30insAT
ENST00000646340.1:c.1974+29_1974+30insAT	ENSP00000496730.1:n.1974+29_1974+30insAT
ENST00000646647.2:c.1968+29_1968+30insAT MANE Select	ENSP00000495240.1:n.1968+29_1968+30insAT
ENST00000399982.6:c.1968+29_1968+30insAT	ENSP00000382863.2:n.1968+29_1968+30insAT
ENST00000430710.7:c.1131+29_1131+30insAT	ENSP00000406288.3:n.1131+29_1131+30insAT
ENST00000555962.5:n.151-12503_151-12502insAT
ENST00000557364.5:c.1968+29_1968+30insAT	ENSP00000451601.1:n.1968+29_1968+30insAT
NM_001170629.1:c.1968+29_1968+30insAT	NP_001164100.1:n.1968+29_1968+30insAT
NM_020920.3:c.1131+29_1131+30insAT	NP_065971.2:n.1131+29_1131+30insAT
NM_001170629.2:c.1968+29_1968+30insAT MANE Select	NP_001164100.1:n.1968+29_1968+30insAT
NM_020920.4:c.1131+29_1131+30insAT	NP_065971.2:n.1131+29_1131+30insAT