Canonical Allele Identifier: CA2122489636

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415787T= , CM000676.2:g.21415787T=	GRCh38
NC_000014.8:g.21883946T= , CM000676.1:g.21883946T=	GRCh37
NC_000014.7:g.20953786T=	NCBI36
NG_021249.1:g.26512A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1000A=	ENSP00000406288.3:p.Ile334=
ENST00000555962.6:c.-110-12745A=	ENSP00000495174.1:n.-110-12745A=
ENST00000557364.6:c.1837A=	ENSP00000451601.1:p.Ile613=
ENST00000642914.1:n.820A=
ENST00000643469.1:c.1837A=	ENSP00000495070.1:p.Ile613=
ENST00000645140.1:c.1749A=
ENST00000645206.1:n.351A=
ENST00000645929.1:c.1000A=	ENSP00000494402.1:p.Ile334=
ENST00000646340.1:c.1843A=	ENSP00000496730.1:p.Ile615=
ENST00000646647.2:c.1837A= MANE Select	ENSP00000495240.1:p.Ile613=
ENST00000399982.6:c.1837A=	ENSP00000382863.2:p.Ile613=
ENST00000430710.7:c.1000A=	ENSP00000406288.3:p.Ile334=
ENST00000555962.5:n.151-12745A=
ENST00000557364.5:c.1837A=	ENSP00000451601.1:p.Ile613=
NM_001170629.1:c.1837A=	NP_001164100.1:p.Ile613=
NM_020920.3:c.1000A=	NP_065971.2:p.Ile334=
NM_001170629.2:c.1837A= MANE Select	NP_001164100.1:p.Ile613=
NM_020920.4:c.1000A=	NP_065971.2:p.Ile334=