Canonical Allele Identifier: CA388876468
Gene: CHD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409897C>A , CM000676.2:g.21409897C>A GRCh38
NC_000014.8:g.21878056C>A , CM000676.1:g.21878056C>A GRCh37
NC_000014.7:g.20947896C>A NCBI36
NG_021249.1:g.32402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.1481G>T ENSP00000406288.3:p.Arg494Leu
ENST00000555962.6:c.-110-6855G>T ENSP00000495174.1:n.-110-6855G>T
ENST00000557364.6:c.2318G>T ENSP00000451601.1:p.Arg773Leu
ENST00000643469.1:c.2318G>T ENSP00000495070.1:p.Arg773Leu
ENST00000645140.1:c.2230G>T
ENST00000645206.1:n.832G>T
ENST00000645929.1:c.1481G>T ENSP00000494402.1:p.Arg494Leu
ENST00000646340.1:c.2324G>T ENSP00000496730.1:p.Arg775Leu
ENST00000646647.2:c.2318G>T MANE Select ENSP00000495240.1:p.Arg773Leu
ENST00000399982.6:c.2318G>T ENSP00000382863.2:p.Arg773Leu
ENST00000430710.7:c.1481G>T ENSP00000406288.3:p.Arg494Leu
ENST00000554384.1:n.186G>T
ENST00000555962.5:n.151-6855G>T
ENST00000557364.5:c.2318G>T ENSP00000451601.1:p.Arg773Leu
NM_001170629.1:c.2318G>T NP_001164100.1:p.Arg773Leu
NM_020920.3:c.1481G>T NP_065971.2:p.Arg494Leu
NM_001170629.2:c.2318G>T MANE Select NP_001164100.1:p.Arg773Leu
NM_020920.4:c.1481G>T NP_065971.2:p.Arg494Leu