Canonical Allele Identifier: CA7091479

Gene: CHD8

Linked Data

• dbSNP Id: rs761518224
• ExAC: 14:21873937 T / C
• gnomAD v2: 14-21873937-T-C
• gnomAD v3: 14-21405778-T-C
• gnomAD v4: 14-21405778-T-C
• MyVariant Identifiers: chr14:g.21873937T>C (hg19) ; chr14:g.21405778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405778T>C , CM000676.2:g.21405778T>C	GRCh38
NC_000014.8:g.21873937T>C , CM000676.1:g.21873937T>C	GRCh37
NC_000014.7:g.20943777T>C	NCBI36
NG_021249.1:g.36521A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2157A>G	ENSP00000406288.3:p.Gln719=
ENST00000555935.2:c.670A>G
ENST00000555962.6:c.-110-2736A>G	ENSP00000495174.1:n.-110-2736A>G
ENST00000557364.6:c.2994A>G	ENSP00000451601.1:p.Gln998=
ENST00000643469.1:c.2994A>G	ENSP00000495070.1:p.Gln998=
ENST00000645140.1:c.2906A>G
ENST00000645206.1:n.1508A>G
ENST00000645929.1:c.2157A>G	ENSP00000494402.1:p.Gln719=
ENST00000646340.1:c.3000A>G	ENSP00000496730.1:p.Gln1000=
ENST00000646647.2:c.2994A>G MANE Select	ENSP00000495240.1:p.Gln998=
ENST00000399982.6:c.2994A>G	ENSP00000382863.2:p.Gln998=
ENST00000430710.7:c.2157A>G	ENSP00000406288.3:p.Gln719=
ENST00000555935.1:c.670A>G
ENST00000555962.5:n.151-2736A>G
ENST00000557364.5:c.2994A>G	ENSP00000451601.1:p.Gln998=
NM_001170629.1:c.2994A>G	NP_001164100.1:p.Gln998=
NM_020920.3:c.2157A>G	NP_065971.2:p.Gln719=
NM_001170629.2:c.2994A>G MANE Select	NP_001164100.1:p.Gln998=
NM_020920.4:c.2157A>G	NP_065971.2:p.Gln719=