Canonical Allele Identifier: CA7090601

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391012T>C , CM000676.2:g.21391012T>C	GRCh38
NC_000014.8:g.21859171T>C , CM000676.1:g.21859171T>C	GRCh37
NC_000014.7:g.20929011T>C	NCBI36
NG_021249.1:g.51287A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7117A>G MANE Select	NP_001164100.1:p.Lys2373Glu
ENST00000646647.2:c.7117A>G MANE Select	ENSP00000495240.1:p.Lys2373Glu
NM_001170629.1:c.7117A>G	NP_001164100.1:p.Lys2373Glu
NM_020920.3:c.6280A>G	NP_065971.2:p.Lys2094Glu
NM_020920.4:c.6280A>G	NP_065971.2:p.Lys2094Glu
ENST00000399982.6:c.7117A>G	ENSP00000382863.2:p.Lys2373Glu
ENST00000430710.7:c.6280A>G	ENSP00000406288.3:p.Lys2094Glu
ENST00000430710.8:c.6280A>G	ENSP00000406288.3:p.Lys2094Glu
ENST00000553870.1:c.448A>G	ENSP00000451071.1:p.Lys150Glu
ENST00000553870.2:c.489A>G
ENST00000555935.2:c.4817A>G
ENST00000557364.5:c.7117A>G	ENSP00000451601.1:p.Lys2373Glu
ENST00000557364.6:c.7117A>G	ENSP00000451601.1:p.Lys2373Glu
ENST00000643469.1:c.7117A>G	ENSP00000495070.1:p.Lys2373Glu
ENST00000645206.1:n.6273A>G
ENST00000645929.1:c.6280A>G	ENSP00000494402.1:p.Lys2094Glu
XR_001750627.1:n.622-398T>C