Canonical Allele Identifier: CA484993646

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21859736G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391577G>C , CM000676.2:g.21391577G>C	GRCh38
NC_000014.8:g.21859736G>C , CM000676.1:g.21859736G>C	GRCh37
NC_000014.7:g.20929576G>C	NCBI36
NG_021249.1:g.50722C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6114C>G	ENSP00000406288.3:p.Val2038=
ENST00000553870.2:c.437+256C>G
ENST00000555935.2:c.4651C>G
ENST00000557364.6:c.6951C>G	ENSP00000451601.1:p.Val2317=
ENST00000643469.1:c.6951C>G	ENSP00000495070.1:p.Val2317=
ENST00000645206.1:n.6107C>G
ENST00000645929.1:c.6114C>G	ENSP00000494402.1:p.Val2038=
ENST00000646647.2:c.6951C>G MANE Select	ENSP00000495240.1:p.Val2317=
ENST00000399982.6:c.6951C>G	ENSP00000382863.2:p.Val2317=
ENST00000430710.7:c.6114C>G	ENSP00000406288.3:p.Val2038=
ENST00000553870.1:c.396+256C>G	ENSP00000451071.1:n.396+256C>G
ENST00000557364.5:c.6951C>G	ENSP00000451601.1:p.Val2317=
NM_001170629.1:c.6951C>G	NP_001164100.1:p.Val2317=
NM_020920.3:c.6114C>G	NP_065971.2:p.Val2038=
XR_001750627.1:n.789G>C
NM_001170629.2:c.6951C>G MANE Select	NP_001164100.1:p.Val2317=
NM_020920.4:c.6114C>G	NP_065971.2:p.Val2038=