Canonical Allele Identifier: CA485001096

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21873951A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405792A>G , CM000676.2:g.21405792A>G	GRCh38
NC_000014.8:g.21873951A>G , CM000676.1:g.21873951A>G	GRCh37
NC_000014.7:g.20943791A>G	NCBI36
NG_021249.1:g.36507T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2143T>C	ENSP00000406288.3:p.Leu715=
ENST00000555935.2:c.656T>C
ENST00000555962.6:c.-110-2750T>C	ENSP00000495174.1:n.-110-2750T>C
ENST00000557364.6:c.2980T>C	ENSP00000451601.1:p.Leu994=
ENST00000643469.1:c.2980T>C	ENSP00000495070.1:p.Leu994=
ENST00000645140.1:c.2892T>C
ENST00000645206.1:n.1494T>C
ENST00000645929.1:c.2143T>C	ENSP00000494402.1:p.Leu715=
ENST00000646340.1:c.2986T>C	ENSP00000496730.1:p.Leu996=
ENST00000646647.2:c.2980T>C MANE Select	ENSP00000495240.1:p.Leu994=
ENST00000399982.6:c.2980T>C	ENSP00000382863.2:p.Leu994=
ENST00000430710.7:c.2143T>C	ENSP00000406288.3:p.Leu715=
ENST00000555935.1:c.656T>C
ENST00000555962.5:n.151-2750T>C
ENST00000557364.5:c.2980T>C	ENSP00000451601.1:p.Leu994=
NM_001170629.1:c.2980T>C	NP_001164100.1:p.Leu994=
NM_020920.3:c.2143T>C	NP_065971.2:p.Leu715=
NM_001170629.2:c.2980T>C MANE Select	NP_001164100.1:p.Leu994=
NM_020920.4:c.2143T>C	NP_065971.2:p.Leu715=