Canonical Allele Identifier: CA388876904

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391035C>T , CM000676.2:g.21391035C>T	GRCh38
NC_000014.8:g.21859194C>T , CM000676.1:g.21859194C>T	GRCh37
NC_000014.7:g.20929034C>T	NCBI36
NG_021249.1:g.51264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6257G>A	ENSP00000406288.3:p.Trp2086Ter
ENST00000553870.2:c.466G>A
ENST00000555935.2:c.4794G>A
ENST00000557364.6:c.7094G>A	ENSP00000451601.1:p.Trp2365Ter
ENST00000643469.1:c.7094G>A	ENSP00000495070.1:p.Trp2365Ter
ENST00000645206.1:n.6250G>A
ENST00000645929.1:c.6257G>A	ENSP00000494402.1:p.Trp2086Ter
ENST00000646647.2:c.7094G>A MANE Select	ENSP00000495240.1:p.Trp2365Ter
ENST00000399982.6:c.7094G>A	ENSP00000382863.2:p.Trp2365Ter
ENST00000430710.7:c.6257G>A	ENSP00000406288.3:p.Trp2086Ter
ENST00000553870.1:c.425G>A	ENSP00000451071.1:p.Trp142Ter
ENST00000557364.5:c.7094G>A	ENSP00000451601.1:p.Trp2365Ter
NM_001170629.1:c.7094G>A	NP_001164100.1:p.Trp2365Ter
NM_020920.3:c.6257G>A	NP_065971.2:p.Trp2086Ter
XR_001750627.1:n.622-375C>T
NM_001170629.2:c.7094G>A MANE Select	NP_001164100.1:p.Trp2365Ter
NM_020920.4:c.6257G>A	NP_065971.2:p.Trp2086Ter