Canonical Allele Identifier: CA2122502596
Gene: CHD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21406000C= , CM000676.2:g.21406000C= GRCh38
NC_000014.8:g.21874159C= , CM000676.1:g.21874159C= GRCh37
NC_000014.7:g.20943999C= NCBI36
NG_021249.1:g.36299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.2071-136G= ENSP00000406288.3:n.2071-136G=
ENST00000555935.2:c.584-136G=
ENST00000555962.6:c.-110-2958G= ENSP00000495174.1:n.-110-2958G=
ENST00000557364.6:c.2908-136G= ENSP00000451601.1:n.2908-136G=
ENST00000643469.1:c.2908-136G= ENSP00000495070.1:n.2908-136G=
ENST00000645140.1:c.2820-136G=
ENST00000645206.1:n.1422-136G=
ENST00000645929.1:c.2071-136G= ENSP00000494402.1:n.2071-136G=
ENST00000646340.1:c.2914-136G= ENSP00000496730.1:n.2914-136G=
ENST00000646647.2:c.2908-136G= MANE Select ENSP00000495240.1:n.2908-136G=
ENST00000399982.6:c.2908-136G= ENSP00000382863.2:n.2908-136G=
ENST00000430710.7:c.2071-136G= ENSP00000406288.3:n.2071-136G=
ENST00000555935.1:c.584-136G=
ENST00000555962.5:n.151-2958G=
ENST00000557364.5:c.2908-136G= ENSP00000451601.1:n.2908-136G=
NM_001170629.1:c.2908-136G= NP_001164100.1:n.2908-136G=
NM_020920.3:c.2071-136G= NP_065971.2:n.2071-136G=
NM_001170629.2:c.2908-136G= MANE Select NP_001164100.1:n.2908-136G=
NM_020920.4:c.2071-136G= NP_065971.2:n.2071-136G=