Canonical Allele Identifier: CA485001130

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21868708A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400549A>G , CM000676.2:g.21400549A>G	GRCh38
NC_000014.8:g.21868708A>G , CM000676.1:g.21868708A>G	GRCh37
NC_000014.7:g.20938548A>G	NCBI36
NG_021249.1:g.41750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3597T>C	ENSP00000406288.3:p.Asp1199=
ENST00000555935.2:c.2110T>C
ENST00000555962.6:c.265-242T>C	ENSP00000495174.1:n.265-242T>C
ENST00000557364.6:c.4434T>C	ENSP00000451601.1:p.Asp1478=
ENST00000643469.1:c.4434T>C	ENSP00000495070.1:p.Asp1478=
ENST00000645206.1:n.2948T>C
ENST00000645929.1:c.3597T>C	ENSP00000494402.1:p.Asp1199=
ENST00000646340.1:c.4440T>C	ENSP00000496730.1:p.Asp1480=
ENST00000646558.1:n.1250T>C
ENST00000646647.2:c.4434T>C MANE Select	ENSP00000495240.1:p.Asp1478=
ENST00000399982.6:c.4434T>C	ENSP00000382863.2:p.Asp1478=
ENST00000430710.7:c.3597T>C	ENSP00000406288.3:p.Asp1199=
ENST00000555935.1:c.2110T>C
ENST00000555962.5:n.525-242T>C
ENST00000557364.5:c.4434T>C	ENSP00000451601.1:p.Asp1478=
NM_001170629.1:c.4434T>C	NP_001164100.1:p.Asp1478=
NM_020920.3:c.3597T>C	NP_065971.2:p.Asp1199=
NM_001170629.2:c.4434T>C MANE Select	NP_001164100.1:p.Asp1478=
NM_020920.4:c.3597T>C	NP_065971.2:p.Asp1199=