Canonical Allele Identifier: CA10603198

Gene: CHD8

Linked Data

• ClinVar Variation Id: 280734
• ClinVar RCV Id: RCV000388503
• dbSNP Id: rs886041884
• MyVariant Identifiers: chr14:g.21870644G>A (hg19) ; chr14:g.21402485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21402485G>A , CM000676.2:g.21402485G>A	GRCh38
NC_000014.8:g.21870644G>A , CM000676.1:g.21870644G>A	GRCh37
NC_000014.7:g.20940484G>A	NCBI36
NG_021249.1:g.39814C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2896C>T	ENSP00000406288.3:p.Arg966Ter
ENST00000555935.2:c.1409C>T
ENST00000555962.6:c.-66C>T	ENSP00000495174.1:n.-66C>T
ENST00000557364.6:c.3733C>T	ENSP00000451601.1:p.Arg1245Ter
ENST00000643469.1:c.3733C>T	ENSP00000495070.1:p.Arg1245Ter
ENST00000645206.1:n.2247C>T
ENST00000645929.1:c.2896C>T	ENSP00000494402.1:p.Arg966Ter
ENST00000646340.1:c.3739C>T	ENSP00000496730.1:p.Arg1247Ter
ENST00000646647.2:c.3733C>T MANE Select	ENSP00000495240.1:p.Arg1245Ter
ENST00000399982.6:c.3733C>T	ENSP00000382863.2:p.Arg1245Ter
ENST00000430710.7:c.2896C>T	ENSP00000406288.3:p.Arg966Ter
ENST00000555935.1:c.1409C>T
ENST00000555962.5:n.195C>T
ENST00000557364.5:c.3733C>T	ENSP00000451601.1:p.Arg1245Ter
NM_001170629.1:c.3733C>T	NP_001164100.1:p.Arg1245Ter
NM_020920.3:c.2896C>T	NP_065971.2:p.Arg966Ter
NM_001170629.2:c.3733C>T MANE Select	NP_001164100.1:p.Arg1245Ter
NM_020920.4:c.2896C>T	NP_065971.2:p.Arg966Ter