Canonical Allele Identifier: CA2122483208

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409881A= , CM000676.2:g.21409881A=	GRCh38
NC_000014.8:g.21878040A= , CM000676.1:g.21878040A=	GRCh37
NC_000014.7:g.20947880A=	NCBI36
NG_021249.1:g.32418T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1497T=	ENSP00000406288.3:p.Ile499=
ENST00000555935.2:c.10T=
ENST00000555962.6:c.-110-6839T=	ENSP00000495174.1:n.-110-6839T=
ENST00000557364.6:c.2334T=	ENSP00000451601.1:p.Ile778=
ENST00000643469.1:c.2334T=	ENSP00000495070.1:p.Ile778=
ENST00000645140.1:c.2246T=
ENST00000645206.1:n.848T=
ENST00000645929.1:c.1497T=	ENSP00000494402.1:p.Ile499=
ENST00000646340.1:c.2340T=	ENSP00000496730.1:p.Ile780=
ENST00000646647.2:c.2334T= MANE Select	ENSP00000495240.1:p.Ile778=
ENST00000399982.6:c.2334T=	ENSP00000382863.2:p.Ile778=
ENST00000430710.7:c.1497T=	ENSP00000406288.3:p.Ile499=
ENST00000554384.1:n.202T=
ENST00000555935.1:c.10T=
ENST00000555962.5:n.151-6839T=
ENST00000557364.5:c.2334T=	ENSP00000451601.1:p.Ile778=
NM_001170629.1:c.2334T=	NP_001164100.1:p.Ile778=
NM_020920.3:c.1497T=	NP_065971.2:p.Ile499=
NM_001170629.2:c.2334T= MANE Select	NP_001164100.1:p.Ile778=
NM_020920.4:c.1497T=	NP_065971.2:p.Ile499=