Canonical Allele Identifier: CA2122503799

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406937C= , CM000676.2:g.21406937C=	GRCh38
NC_000014.8:g.21875096C= , CM000676.1:g.21875096C=	GRCh37
NC_000014.7:g.20944936C=	NCBI36
NG_021249.1:g.35362G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1989G=	ENSP00000406288.3:p.Trp663=
ENST00000555935.2:c.502G=
ENST00000555962.6:c.-110-3895G=	ENSP00000495174.1:n.-110-3895G=
ENST00000557364.6:c.2826G=	ENSP00000451601.1:p.Trp942=
ENST00000643469.1:c.2826G=	ENSP00000495070.1:p.Trp942=
ENST00000645140.1:c.2738G=
ENST00000645206.1:n.1340G=
ENST00000645929.1:c.1989G=	ENSP00000494402.1:p.Trp663=
ENST00000646340.1:c.2832G=	ENSP00000496730.1:p.Trp944=
ENST00000646647.2:c.2826G= MANE Select	ENSP00000495240.1:p.Trp942=
ENST00000399982.6:c.2826G=	ENSP00000382863.2:p.Trp942=
ENST00000430710.7:c.1989G=	ENSP00000406288.3:p.Trp663=
ENST00000555935.1:c.502G=
ENST00000555962.5:n.151-3895G=
ENST00000557364.5:c.2826G=	ENSP00000451601.1:p.Trp942=
NM_001170629.1:c.2826G=	NP_001164100.1:p.Trp942=
NM_020920.3:c.1989G=	NP_065971.2:p.Trp663=
NM_001170629.2:c.2826G= MANE Select	NP_001164100.1:p.Trp942=
NM_020920.4:c.1989G=	NP_065971.2:p.Trp663=