Canonical Allele Identifier: CA2122494402

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400554G= , CM000676.2:g.21400554G=	GRCh38
NC_000014.8:g.21868713G= , CM000676.1:g.21868713G=	GRCh37
NC_000014.7:g.20938553G=	NCBI36
NG_021249.1:g.41745C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3592C=	ENSP00000406288.3:p.Arg1198=
ENST00000555935.2:c.2105C=
ENST00000555962.6:c.265-247C=	ENSP00000495174.1:n.265-247C=
ENST00000557364.6:c.4429C=	ENSP00000451601.1:p.Arg1477=
ENST00000643469.1:c.4429C=	ENSP00000495070.1:p.Arg1477=
ENST00000645206.1:n.2943C=
ENST00000645929.1:c.3592C=	ENSP00000494402.1:p.Arg1198=
ENST00000646340.1:c.4435C=	ENSP00000496730.1:p.Arg1479=
ENST00000646558.1:n.1245C=
ENST00000646647.2:c.4429C= MANE Select	ENSP00000495240.1:p.Arg1477=
ENST00000399982.6:c.4429C=	ENSP00000382863.2:p.Arg1477=
ENST00000430710.7:c.3592C=	ENSP00000406288.3:p.Arg1198=
ENST00000555935.1:c.2105C=
ENST00000555962.5:n.525-247C=
ENST00000557364.5:c.4429C=	ENSP00000451601.1:p.Arg1477=
NM_001170629.1:c.4429C=	NP_001164100.1:p.Arg1477=
NM_020920.3:c.3592C=	NP_065971.2:p.Arg1198=
NM_001170629.2:c.4429C= MANE Select	NP_001164100.1:p.Arg1477=
NM_020920.4:c.3592C=	NP_065971.2:p.Arg1198=