Canonical Allele Identifier: CA388876436
Gene: CHD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409881A>C , CM000676.2:g.21409881A>C GRCh38
NC_000014.8:g.21878040A>C , CM000676.1:g.21878040A>C GRCh37
NC_000014.7:g.20947880A>C NCBI36
NG_021249.1:g.32418T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1497T>G ENSP00000406288.3:p.Ile499Met
ENST00000555935.2:c.10T>G
ENST00000555962.6:c.-110-6839T>G ENSP00000495174.1:n.-110-6839T>G
ENST00000557364.6:c.2334T>G ENSP00000451601.1:p.Ile778Met
ENST00000643469.1:c.2334T>G ENSP00000495070.1:p.Ile778Met
ENST00000645140.1:c.2246T>G
ENST00000645206.1:n.848T>G
ENST00000645929.1:c.1497T>G ENSP00000494402.1:p.Ile499Met
ENST00000646340.1:c.2340T>G ENSP00000496730.1:p.Ile780Met
ENST00000646647.2:c.2334T>G MANE Select ENSP00000495240.1:p.Ile778Met
ENST00000399982.6:c.2334T>G ENSP00000382863.2:p.Ile778Met
ENST00000430710.7:c.1497T>G ENSP00000406288.3:p.Ile499Met
ENST00000554384.1:n.202T>G
ENST00000555935.1:c.10T>G
ENST00000555962.5:n.151-6839T>G
ENST00000557364.5:c.2334T>G ENSP00000451601.1:p.Ile778Met
NM_001170629.1:c.2334T>G NP_001164100.1:p.Ile778Met
NM_020920.3:c.1497T>G NP_065971.2:p.Ile499Met
NM_001170629.2:c.2334T>G MANE Select NP_001164100.1:p.Ile778Met
NM_020920.4:c.1497T>G NP_065971.2:p.Ile499Met