Canonical Allele Identifier: CA2122489639

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415791C= , CM000676.2:g.21415791C=	GRCh38
NC_000014.8:g.21883950C= , CM000676.1:g.21883950C=	GRCh37
NC_000014.7:g.20953790C=	NCBI36
NG_021249.1:g.26508G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.996G=	ENSP00000406288.3:p.Glu332=
ENST00000555962.6:c.-110-12749G=	ENSP00000495174.1:n.-110-12749G=
ENST00000557364.6:c.1833G=	ENSP00000451601.1:p.Glu611=
ENST00000642914.1:n.816G=
ENST00000643469.1:c.1833G=	ENSP00000495070.1:p.Glu611=
ENST00000645140.1:c.1745G=
ENST00000645206.1:n.347G=
ENST00000645929.1:c.996G=	ENSP00000494402.1:p.Glu332=
ENST00000646340.1:c.1839G=	ENSP00000496730.1:p.Glu613=
ENST00000646647.2:c.1833G= MANE Select	ENSP00000495240.1:p.Glu611=
ENST00000399982.6:c.1833G=	ENSP00000382863.2:p.Glu611=
ENST00000430710.7:c.996G=	ENSP00000406288.3:p.Glu332=
ENST00000555962.5:n.151-12749G=
ENST00000557364.5:c.1833G=	ENSP00000451601.1:p.Glu611=
NM_001170629.1:c.1833G=	NP_001164100.1:p.Glu611=
NM_020920.3:c.996G=	NP_065971.2:p.Glu332=
NM_001170629.2:c.1833G= MANE Select	NP_001164100.1:p.Glu611=
NM_020920.4:c.996G=	NP_065971.2:p.Glu332=