Canonical Allele Identifier: CA7090527

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21385769C>T , CM000676.2:g.21385769C>T	GRCh38
NC_000014.8:g.21853928C>T , CM000676.1:g.21853928C>T	GRCh37
NC_000014.7:g.20923768C>T	NCBI36
NG_009932.1:g.3498G>A
NG_021249.1:g.56530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7590G>A MANE Select	NP_001164100.1:p.Arg2530=
ENST00000646647.2:c.7590G>A MANE Select	ENSP00000495240.1:p.Arg2530=
NM_001170629.1:c.7590G>A	NP_001164100.1:p.Arg2530=
NM_020920.3:c.6753G>A	NP_065971.2:p.Arg2251=
NM_020920.4:c.6753G>A	NP_065971.2:p.Arg2251=
ENST00000399982.6:c.7590G>A	ENSP00000382863.2:p.Arg2530=
ENST00000430710.7:c.6753G>A	ENSP00000406288.3:p.Arg2251=
ENST00000430710.8:c.6753G>A	ENSP00000406288.3:p.Arg2251=
ENST00000553870.2:c.962G>A
ENST00000555935.2:c.5290G>A
ENST00000557364.5:c.7590G>A	ENSP00000451601.1:p.Arg2530=
ENST00000557364.6:c.7590G>A	ENSP00000451601.1:p.Arg2530=
ENST00000557727.1:n.576G>A
ENST00000643469.1:c.7590G>A	ENSP00000495070.1:p.Arg2530=
ENST00000645206.1:n.6746G>A
ENST00000645929.1:c.6753G>A	ENSP00000494402.1:p.Arg2251=
XR_001750627.1:n.621+1056C>T