Canonical Allele Identifier: CA388893980
Gene: CHD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21400527T>A , CM000676.2:g.21400527T>A GRCh38
NC_000014.8:g.21868686T>A , CM000676.1:g.21868686T>A GRCh37
NC_000014.7:g.20938526T>A NCBI36
NG_021249.1:g.41772A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.3619A>T ENSP00000406288.3:p.Ile1207Phe
ENST00000555935.2:c.2132A>T
ENST00000555962.6:c.265-220A>T ENSP00000495174.1:n.265-220A>T
ENST00000557364.6:c.4456A>T ENSP00000451601.1:p.Ile1486Phe
ENST00000643469.1:c.4456A>T ENSP00000495070.1:p.Ile1486Phe
ENST00000645206.1:n.2970A>T
ENST00000645929.1:c.3619A>T ENSP00000494402.1:p.Ile1207Phe
ENST00000646340.1:c.4462A>T ENSP00000496730.1:p.Ile1488Phe
ENST00000646558.1:n.1272A>T
ENST00000646647.2:c.4456A>T MANE Select ENSP00000495240.1:p.Ile1486Phe
ENST00000399982.6:c.4456A>T ENSP00000382863.2:p.Ile1486Phe
ENST00000430710.7:c.3619A>T ENSP00000406288.3:p.Ile1207Phe
ENST00000555935.1:c.2132A>T
ENST00000555962.5:n.525-220A>T
ENST00000557364.5:c.4456A>T ENSP00000451601.1:p.Ile1486Phe
NM_001170629.1:c.4456A>T NP_001164100.1:p.Ile1486Phe
NM_020920.3:c.3619A>T NP_065971.2:p.Ile1207Phe
NM_001170629.2:c.4456A>T MANE Select NP_001164100.1:p.Ile1486Phe
NM_020920.4:c.3619A>T NP_065971.2:p.Ile1207Phe