Canonical Allele Identifier: CA2122495269
Gene: CHD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21401138T= , CM000676.2:g.21401138T= GRCh38
NC_000014.8:g.21869297T= , CM000676.1:g.21869297T= GRCh37
NC_000014.7:g.20939137T= NCBI36
NG_021249.1:g.41161A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.3337-67A= ENSP00000406288.3:n.3337-67A=
ENST00000555935.2:c.1850-67A=
ENST00000555962.6:c.264+819A= ENSP00000495174.1:n.264+819A=
ENST00000557364.6:c.4174-67A= ENSP00000451601.1:n.4174-67A=
ENST00000643469.1:c.4174-67A= ENSP00000495070.1:n.4174-67A=
ENST00000645206.1:n.2688-67A=
ENST00000645929.1:c.3337-67A= ENSP00000494402.1:n.3337-67A=
ENST00000646340.1:c.4180-67A= ENSP00000496730.1:n.4180-67A=
ENST00000646558.1:n.728-67A=
ENST00000646647.2:c.4174-67A= MANE Select ENSP00000495240.1:n.4174-67A=
ENST00000399982.6:c.4174-67A= ENSP00000382863.2:n.4174-67A=
ENST00000430710.7:c.3337-67A= ENSP00000406288.3:n.3337-67A=
ENST00000555935.1:c.1850-67A=
ENST00000555962.5:n.524+819A=
ENST00000557364.5:c.4174-67A= ENSP00000451601.1:n.4174-67A=
NM_001170629.1:c.4174-67A= NP_001164100.1:n.4174-67A=
NM_020920.3:c.3337-67A= NP_065971.2:n.3337-67A=
NM_001170629.2:c.4174-67A= MANE Select NP_001164100.1:n.4174-67A=
NM_020920.4:c.3337-67A= NP_065971.2:n.3337-67A=