Canonical Allele Identifier: CA2122503668
Gene: CHD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21406841C= , CM000676.2:g.21406841C= GRCh38
NC_000014.8:g.21875000C= , CM000676.1:g.21875000C= GRCh37
NC_000014.7:g.20944840C= NCBI36
NG_021249.1:g.35458G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.2070+15G= ENSP00000406288.3:n.2070+15G=
ENST00000555935.2:c.583+15G=
ENST00000555962.6:c.-110-3799G= ENSP00000495174.1:n.-110-3799G=
ENST00000557364.6:c.2907+15G= ENSP00000451601.1:n.2907+15G=
ENST00000643469.1:c.2907+15G= ENSP00000495070.1:n.2907+15G=
ENST00000645140.1:c.2819+15G=
ENST00000645206.1:n.1421+15G=
ENST00000645929.1:c.2070+15G= ENSP00000494402.1:n.2070+15G=
ENST00000646340.1:c.2913+15G= ENSP00000496730.1:n.2913+15G=
ENST00000646647.2:c.2907+15G= MANE Select ENSP00000495240.1:n.2907+15G=
ENST00000399982.6:c.2907+15G= ENSP00000382863.2:n.2907+15G=
ENST00000430710.7:c.2070+15G= ENSP00000406288.3:n.2070+15G=
ENST00000555935.1:c.583+15G=
ENST00000555962.5:n.151-3799G=
ENST00000557364.5:c.2907+15G= ENSP00000451601.1:n.2907+15G=
NM_001170629.1:c.2907+15G= NP_001164100.1:n.2907+15G=
NM_020920.3:c.2070+15G= NP_065971.2:n.2070+15G=
NM_001170629.2:c.2907+15G= MANE Select NP_001164100.1:n.2907+15G=
NM_020920.4:c.2070+15G= NP_065971.2:n.2070+15G=