Canonical Allele Identifier: CA2122506293
Gene: CHD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21429400C= , CM000676.2:g.21429400C= GRCh38
NC_000014.8:g.21897559C= , CM000676.1:g.21897559C= GRCh37
NC_000014.7:g.20967399C= NCBI36
NG_021249.1:g.12899G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.7-65G= ENSP00000406288.3:n.7-65G=
ENST00000553651.2:n.2585G=
ENST00000555962.6:c.-111+2411G= ENSP00000495174.1:n.-111+2411G=
ENST00000557364.6:c.844-65G= ENSP00000451601.1:n.844-65G=
ENST00000642518.1:c.7-65G= ENSP00000496722.1:n.7-65G=
ENST00000643048.1:n.1139-65G=
ENST00000643469.1:c.844-65G= ENSP00000495070.1:n.844-65G=
ENST00000645140.1:c.756-65G=
ENST00000645929.1:c.7-65G= ENSP00000494402.1:n.7-65G=
ENST00000646063.1:c.931-65G= ENSP00000496565.1:n.931-65G=
ENST00000646340.1:c.850-65G= ENSP00000496730.1:n.850-65G=
ENST00000646647.2:c.844-65G= MANE Select ENSP00000495240.1:n.844-65G=
ENST00000399982.6:c.844-65G= ENSP00000382863.2:n.844-65G=
ENST00000430710.7:c.7-65G= ENSP00000406288.3:n.7-65G=
ENST00000553283.1:c.97-65G= ENSP00000450860.1:n.97-65G=
ENST00000555962.5:n.150+2411G=
ENST00000557364.5:c.844-65G= ENSP00000451601.1:n.844-65G=
NM_001170629.1:c.844-65G= NP_001164100.1:n.844-65G=
NM_020920.3:c.7-65G= NP_065971.2:n.7-65G=
NM_001170629.2:c.844-65G= MANE Select NP_001164100.1:n.844-65G=
NM_020920.4:c.7-65G= NP_065971.2:n.7-65G=