Canonical Allele Identifier: CA210035

Gene: CHD8

Linked Data

• ClinVar Variation Id: 216902
• ClinVar RCV Id: RCV000200678
• dbSNP Id: rs776631057
• COSMIC: COSM1177246
• MyVariant Identifiers: chr14:g.21878057G>A (hg19) ; chr14:g.21409898G>A (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409898G>A , CM000676.2:g.21409898G>A	GRCh38
NC_000014.8:g.21878057G>A , CM000676.1:g.21878057G>A	GRCh37
NC_000014.7:g.20947897G>A	NCBI36
NG_021249.1:g.32401C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1480C>T	ENSP00000406288.3:p.Arg494Ter
ENST00000555962.6:c.-110-6856C>T	ENSP00000495174.1:n.-110-6856C>T
ENST00000557364.6:c.2317C>T	ENSP00000451601.1:p.Arg773Ter
ENST00000643469.1:c.2317C>T	ENSP00000495070.1:p.Arg773Ter
ENST00000645140.1:c.2229C>T
ENST00000645206.1:n.831C>T
ENST00000645929.1:c.1480C>T	ENSP00000494402.1:p.Arg494Ter
ENST00000646340.1:c.2323C>T	ENSP00000496730.1:p.Arg775Ter
ENST00000646647.2:c.2317C>T MANE Select	ENSP00000495240.1:p.Arg773Ter
ENST00000399982.6:c.2317C>T	ENSP00000382863.2:p.Arg773Ter
ENST00000430710.7:c.1480C>T	ENSP00000406288.3:p.Arg494Ter
ENST00000554384.1:n.185C>T
ENST00000555962.5:n.151-6856C>T
ENST00000557364.5:c.2317C>T	ENSP00000451601.1:p.Arg773Ter
NM_001170629.1:c.2317C>T	NP_001164100.1:p.Arg773Ter
NM_020920.3:c.1480C>T	NP_065971.2:p.Arg494Ter
NM_001170629.2:c.2317C>T MANE Select	NP_001164100.1:p.Arg773Ter
NM_020920.4:c.1480C>T	NP_065971.2:p.Arg494Ter