Canonical Allele Identifier: CA2122502448

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405858T= , CM000676.2:g.21405858T=	GRCh38
NC_000014.8:g.21874017T= , CM000676.1:g.21874017T=	GRCh37
NC_000014.7:g.20943857T=	NCBI36
NG_021249.1:g.36441A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2077A=	ENSP00000406288.3:p.Lys693=
ENST00000555935.2:c.590A=
ENST00000555962.6:c.-110-2816A=	ENSP00000495174.1:n.-110-2816A=
ENST00000557364.6:c.2914A=	ENSP00000451601.1:p.Lys972=
ENST00000643469.1:c.2914A=	ENSP00000495070.1:p.Lys972=
ENST00000645140.1:c.2826A=
ENST00000645206.1:n.1428A=
ENST00000645929.1:c.2077A=	ENSP00000494402.1:p.Lys693=
ENST00000646340.1:c.2920A=	ENSP00000496730.1:p.Lys974=
ENST00000646647.2:c.2914A= MANE Select	ENSP00000495240.1:p.Lys972=
ENST00000399982.6:c.2914A=	ENSP00000382863.2:p.Lys972=
ENST00000430710.7:c.2077A=	ENSP00000406288.3:p.Lys693=
ENST00000555935.1:c.590A=
ENST00000555962.5:n.151-2816A=
ENST00000557364.5:c.2914A=	ENSP00000451601.1:p.Lys972=
NM_001170629.1:c.2914A=	NP_001164100.1:p.Lys972=
NM_020920.3:c.2077A=	NP_065971.2:p.Lys693=
NM_001170629.2:c.2914A= MANE Select	NP_001164100.1:p.Lys972=
NM_020920.4:c.2077A=	NP_065971.2:p.Lys693=