Canonical Allele Identifier: CA388880400

Gene: CHD8

Linked Data

• ClinVar Variation Id: 429840
• ClinVar RCV Id: RCV000494457 ; RCV000505184
• dbSNP Id: rs1131691627
• MyVariant Identifiers: chr14:g.21861851G>A (hg19) ; chr14:g.21393692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393692G>A , CM000676.2:g.21393692G>A	GRCh38
NC_000014.8:g.21861851G>A , CM000676.1:g.21861851G>A	GRCh37
NC_000014.7:g.20931691G>A	NCBI36
NG_021249.1:g.48607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5266C>T	ENSP00000406288.3:p.Arg1756Ter
ENST00000555935.2:c.3803C>T
ENST00000557364.6:c.6103C>T	ENSP00000451601.1:p.Arg2035Ter
ENST00000643469.1:c.6103C>T	ENSP00000495070.1:p.Arg2035Ter
ENST00000645206.1:n.5259C>T
ENST00000645929.1:c.5266C>T	ENSP00000494402.1:p.Arg1756Ter
ENST00000646647.2:c.6103C>T MANE Select	ENSP00000495240.1:p.Arg2035Ter
ENST00000399982.6:c.6103C>T	ENSP00000382863.2:p.Arg2035Ter
ENST00000430710.7:c.5266C>T	ENSP00000406288.3:p.Arg1756Ter
ENST00000555301.1:n.897C>T
ENST00000557364.5:c.6103C>T	ENSP00000451601.1:p.Arg2035Ter
NM_001170629.1:c.6103C>T	NP_001164100.1:p.Arg2035Ter
NM_020920.3:c.5266C>T	NP_065971.2:p.Arg1756Ter
NM_001170629.2:c.6103C>T MANE Select	NP_001164100.1:p.Arg2035Ter
NM_020920.4:c.5266C>T	NP_065971.2:p.Arg1756Ter