Canonical Allele Identifier: CA485000185

Gene: CHD8

Linked Data

• gnomAD v4: 14-21395061-A-C
• MyVariant Identifiers: chr14:g.21863220A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395061A>C , CM000676.2:g.21395061A>C	GRCh38
NC_000014.8:g.21863220A>C , CM000676.1:g.21863220A>C	GRCh37
NC_000014.7:g.20933060A>C	NCBI36
NG_021249.1:g.47238T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4404T>G	ENSP00000406288.3:p.Ala1468=
ENST00000555935.2:c.2941T>G
ENST00000555962.6:c.*626T>G	ENSP00000495174.1:n.*626T>G
ENST00000557364.6:c.5241T>G	ENSP00000451601.1:p.Ala1747=
ENST00000643469.1:c.5241T>G	ENSP00000495070.1:p.Ala1747=
ENST00000645206.1:n.4397T>G
ENST00000645929.1:c.4404T>G	ENSP00000494402.1:p.Ala1468=
ENST00000646340.1:c.5247T>G	ENSP00000496730.1:p.Ala1749=
ENST00000646647.2:c.5241T>G MANE Select	ENSP00000495240.1:p.Ala1747=
ENST00000399982.6:c.5241T>G	ENSP00000382863.2:p.Ala1747=
ENST00000430710.7:c.4404T>G	ENSP00000406288.3:p.Ala1468=
ENST00000555962.5:n.1195T>G
ENST00000557364.5:c.5241T>G	ENSP00000451601.1:p.Ala1747=
NM_001170629.1:c.5241T>G	NP_001164100.1:p.Ala1747=
NM_020920.3:c.4404T>G	NP_065971.2:p.Ala1468=
NM_001170629.2:c.5241T>G MANE Select	NP_001164100.1:p.Ala1747=
NM_020920.4:c.4404T>G	NP_065971.2:p.Ala1468=