Canonical Allele Identifier: CA484995267

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21861888C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393729C>A , CM000676.2:g.21393729C>A	GRCh38
NC_000014.8:g.21861888C>A , CM000676.1:g.21861888C>A	GRCh37
NC_000014.7:g.20931728C>A	NCBI36
NG_021249.1:g.48570G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5229G>T	ENSP00000406288.3:p.Leu1743=
ENST00000555935.2:c.3766G>T
ENST00000557364.6:c.6066G>T	ENSP00000451601.1:p.Leu2022=
ENST00000643469.1:c.6066G>T	ENSP00000495070.1:p.Leu2022=
ENST00000645206.1:n.5222G>T
ENST00000645929.1:c.5229G>T	ENSP00000494402.1:p.Leu1743=
ENST00000646647.2:c.6066G>T MANE Select	ENSP00000495240.1:p.Leu2022=
ENST00000399982.6:c.6066G>T	ENSP00000382863.2:p.Leu2022=
ENST00000430710.7:c.5229G>T	ENSP00000406288.3:p.Leu1743=
ENST00000555301.1:n.860G>T
ENST00000557364.5:c.6066G>T	ENSP00000451601.1:p.Leu2022=
NM_001170629.1:c.6066G>T	NP_001164100.1:p.Leu2022=
NM_020920.3:c.5229G>T	NP_065971.2:p.Leu1743=
NM_001170629.2:c.6066G>T MANE Select	NP_001164100.1:p.Leu2022=
NM_020920.4:c.5229G>T	NP_065971.2:p.Leu1743=