Canonical Allele Identifier: CA16606934
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 392056
ClinVar RCV Id: RCV000423157
dbSNP Id: rs1057524339
COSMIC: COSM3401226 COSM3401227
MyVariant Identifiers: chr14:g.21876716T>C (hg19) chr14:g.21408557T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21408557T>C , CM000676.2:g.21408557T>C GRCh38
NC_000014.8:g.21876716T>C , CM000676.1:g.21876716T>C GRCh37
NC_000014.7:g.20946556T>C NCBI36
NG_021249.1:g.33742A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1650-2A>G ENSP00000406288.3:n.1650-2A>G
ENST00000555935.2:c.163-2A>G
ENST00000555962.6:c.-110-5515A>G ENSP00000495174.1:n.-110-5515A>G
ENST00000557364.6:c.2487-2A>G ENSP00000451601.1:n.2487-2A>G
ENST00000643469.1:c.2487-2A>G ENSP00000495070.1:n.2487-2A>G
ENST00000645140.1:c.2399-2A>G
ENST00000645206.1:n.1001-2A>G
ENST00000645929.1:c.1650-2A>G ENSP00000494402.1:n.1650-2A>G
ENST00000646340.1:c.2493-2A>G ENSP00000496730.1:n.2493-2A>G
ENST00000646647.2:c.2487-2A>G MANE Select ENSP00000495240.1:n.2487-2A>G
ENST00000399982.6:c.2487-2A>G ENSP00000382863.2:n.2487-2A>G
ENST00000430710.7:c.1650-2A>G ENSP00000406288.3:n.1650-2A>G
ENST00000554384.1:n.501A>G
ENST00000555935.1:c.163-2A>G
ENST00000555962.5:n.151-5515A>G
ENST00000557364.5:c.2487-2A>G ENSP00000451601.1:n.2487-2A>G
NM_001170629.1:c.2487-2A>G NP_001164100.1:n.2487-2A>G
NM_020920.3:c.1650-2A>G NP_065971.2:n.1650-2A>G
NM_001170629.2:c.2487-2A>G MANE Select NP_001164100.1:n.2487-2A>G
NM_020920.4:c.1650-2A>G NP_065971.2:n.1650-2A>G
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