Canonical Allele Identifier: CA2122486975

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395064T= , CM000676.2:g.21395064T=	GRCh38
NC_000014.8:g.21863223T= , CM000676.1:g.21863223T=	GRCh37
NC_000014.7:g.20933063T=	NCBI36
NG_021249.1:g.47235A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4401A=	ENSP00000406288.3:p.Thr1467=
ENST00000555935.2:c.2938A=
ENST00000555962.6:c.*623A=	ENSP00000495174.1:n.*623A=
ENST00000557364.6:c.5238A=	ENSP00000451601.1:p.Thr1746=
ENST00000643469.1:c.5238A=	ENSP00000495070.1:p.Thr1746=
ENST00000645206.1:n.4394A=
ENST00000645929.1:c.4401A=	ENSP00000494402.1:p.Thr1467=
ENST00000646340.1:c.5244A=	ENSP00000496730.1:p.Thr1748=
ENST00000646647.2:c.5238A= MANE Select	ENSP00000495240.1:p.Thr1746=
ENST00000399982.6:c.5238A=	ENSP00000382863.2:p.Thr1746=
ENST00000430710.7:c.4401A=	ENSP00000406288.3:p.Thr1467=
ENST00000555962.5:n.1192A=
ENST00000557364.5:c.5238A=	ENSP00000451601.1:p.Thr1746=
NM_001170629.1:c.5238A=	NP_001164100.1:p.Thr1746=
NM_020920.3:c.4401A=	NP_065971.2:p.Thr1467=
NM_001170629.2:c.5238A= MANE Select	NP_001164100.1:p.Thr1746=
NM_020920.4:c.4401A=	NP_065971.2:p.Thr1467=