Canonical Allele Identifier: CA7090569

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21386106C>T , CM000676.2:g.21386106C>T	GRCh38
NC_000014.8:g.21854265C>T , CM000676.1:g.21854265C>T	GRCh37
NC_000014.7:g.20924105C>T	NCBI36
NG_009932.1:g.3161G>A
NG_021249.1:g.56193G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7253G>A MANE Select	NP_001164100.1:p.Arg2418Gln
ENST00000646647.2:c.7253G>A MANE Select	ENSP00000495240.1:p.Arg2418Gln
NM_001170629.1:c.7253G>A	NP_001164100.1:p.Arg2418Gln
NM_020920.3:c.6416G>A	NP_065971.2:p.Arg2139Gln
NM_020920.4:c.6416G>A	NP_065971.2:p.Arg2139Gln
ENST00000399982.6:c.7253G>A	ENSP00000382863.2:p.Arg2418Gln
ENST00000430710.7:c.6416G>A	ENSP00000406288.3:p.Arg2139Gln
ENST00000430710.8:c.6416G>A	ENSP00000406288.3:p.Arg2139Gln
ENST00000553870.1:c.584G>A	ENSP00000451071.1:p.Arg195Gln
ENST00000553870.2:c.625G>A
ENST00000555935.2:c.4953G>A
ENST00000557364.5:c.7253G>A	ENSP00000451601.1:p.Arg2418Gln
ENST00000557364.6:c.7253G>A	ENSP00000451601.1:p.Arg2418Gln
ENST00000557727.1:n.239G>A
ENST00000643469.1:c.7253G>A	ENSP00000495070.1:p.Arg2418Gln
ENST00000645206.1:n.6409G>A
ENST00000645929.1:c.6416G>A	ENSP00000494402.1:p.Arg2139Gln
XR_001750627.1:n.621+1393C>T