Canonical Allele Identifier: CA7090573

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21386130A>G , CM000676.2:g.21386130A>G	GRCh38
NC_000014.8:g.21854289A>G , CM000676.1:g.21854289A>G	GRCh37
NC_000014.7:g.20924129A>G	NCBI36
NG_009932.1:g.3137T>C
NG_021249.1:g.56169T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7229T>C MANE Select	NP_001164100.1:p.Ile2410Thr
ENST00000646647.2:c.7229T>C MANE Select	ENSP00000495240.1:p.Ile2410Thr
NM_001170629.1:c.7229T>C	NP_001164100.1:p.Ile2410Thr
NM_020920.3:c.6392T>C	NP_065971.2:p.Ile2131Thr
NM_020920.4:c.6392T>C	NP_065971.2:p.Ile2131Thr
ENST00000399982.6:c.7229T>C	ENSP00000382863.2:p.Ile2410Thr
ENST00000430710.7:c.6392T>C	ENSP00000406288.3:p.Ile2131Thr
ENST00000430710.8:c.6392T>C	ENSP00000406288.3:p.Ile2131Thr
ENST00000553870.1:c.560T>C	ENSP00000451071.1:p.Ile187Thr
ENST00000553870.2:c.601T>C
ENST00000555935.2:c.4929T>C
ENST00000557364.5:c.7229T>C	ENSP00000451601.1:p.Ile2410Thr
ENST00000557364.6:c.7229T>C	ENSP00000451601.1:p.Ile2410Thr
ENST00000557727.1:n.215T>C
ENST00000643469.1:c.7229T>C	ENSP00000495070.1:p.Ile2410Thr
ENST00000645206.1:n.6385T>C
ENST00000645929.1:c.6392T>C	ENSP00000494402.1:p.Ile2131Thr
XR_001750627.1:n.621+1417A>G