Canonical Allele Identifier: CA2122503871

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406978T= , CM000676.2:g.21406978T=	GRCh38
NC_000014.8:g.21875137T= , CM000676.1:g.21875137T=	GRCh37
NC_000014.7:g.20944977T=	NCBI36
NG_021249.1:g.35321A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1948A=	ENSP00000406288.3:p.Met650=
ENST00000555935.2:c.461A=
ENST00000555962.6:c.-110-3936A=	ENSP00000495174.1:n.-110-3936A=
ENST00000557364.6:c.2785A=	ENSP00000451601.1:p.Met929=
ENST00000643469.1:c.2785A=	ENSP00000495070.1:p.Met929=
ENST00000645140.1:c.2697A=
ENST00000645206.1:n.1299A=
ENST00000645929.1:c.1948A=	ENSP00000494402.1:p.Met650=
ENST00000646340.1:c.2791A=	ENSP00000496730.1:p.Met931=
ENST00000646647.2:c.2785A= MANE Select	ENSP00000495240.1:p.Met929=
ENST00000399982.6:c.2785A=	ENSP00000382863.2:p.Met929=
ENST00000430710.7:c.1948A=	ENSP00000406288.3:p.Met650=
ENST00000555935.1:c.461A=
ENST00000555962.5:n.151-3936A=
ENST00000557364.5:c.2785A=	ENSP00000451601.1:p.Met929=
NM_001170629.1:c.2785A=	NP_001164100.1:p.Met929=
NM_020920.3:c.1948A=	NP_065971.2:p.Met650=
NM_001170629.2:c.2785A= MANE Select	NP_001164100.1:p.Met929=
NM_020920.4:c.1948A=	NP_065971.2:p.Met650=