Canonical Allele Identifier: CA2122489433
Gene: CHD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21415646C= , CM000676.2:g.21415646C= GRCh38
NC_000014.8:g.21883805C= , CM000676.1:g.21883805C= GRCh37
NC_000014.7:g.20953645C= NCBI36
NG_021249.1:g.26653G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.1063-4G= ENSP00000406288.3:n.1063-4G=
ENST00000555962.6:c.-110-12604G= ENSP00000495174.1:n.-110-12604G=
ENST00000557364.6:c.1900-4G= ENSP00000451601.1:n.1900-4G=
ENST00000642914.1:n.883-4G=
ENST00000643469.1:c.1900-4G= ENSP00000495070.1:n.1900-4G=
ENST00000645140.1:c.1812-4G=
ENST00000645206.1:n.414-4G=
ENST00000645929.1:c.1063-4G= ENSP00000494402.1:n.1063-4G=
ENST00000646340.1:c.1906-4G= ENSP00000496730.1:n.1906-4G=
ENST00000646647.2:c.1900-4G= MANE Select ENSP00000495240.1:n.1900-4G=
ENST00000399982.6:c.1900-4G= ENSP00000382863.2:n.1900-4G=
ENST00000430710.7:c.1063-4G= ENSP00000406288.3:n.1063-4G=
ENST00000555962.5:n.151-12604G=
ENST00000557364.5:c.1900-4G= ENSP00000451601.1:n.1900-4G=
NM_001170629.1:c.1900-4G= NP_001164100.1:n.1900-4G=
NM_020920.3:c.1063-4G= NP_065971.2:n.1063-4G=
NM_001170629.2:c.1900-4G= MANE Select NP_001164100.1:n.1900-4G=
NM_020920.4:c.1063-4G= NP_065971.2:n.1063-4G=