Canonical Allele Identifier: CA388884010
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 426778
ClinVar RCV Id: RCV000490191 RCV003535768
dbSNP Id: rs1085307794
gnomAD v4: 14-21394976-G-A
MyVariant Identifiers: chr14:g.21863135G>A (hg19) chr14:g.21394976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21394976G>A , CM000676.2:g.21394976G>A GRCh38
NC_000014.8:g.21863135G>A , CM000676.1:g.21863135G>A GRCh37
NC_000014.7:g.20932975G>A NCBI36
NG_021249.1:g.47323C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.4489C>T ENSP00000406288.3:p.Arg1497Ter
ENST00000555935.2:c.3026C>T
ENST00000555962.6:c.*711C>T ENSP00000495174.1:n.*711C>T
ENST00000557364.6:c.5326C>T ENSP00000451601.1:p.Arg1776Ter
ENST00000643469.1:c.5326C>T ENSP00000495070.1:p.Arg1776Ter
ENST00000645206.1:n.4482C>T
ENST00000645929.1:c.4489C>T ENSP00000494402.1:p.Arg1497Ter
ENST00000646340.1:c.5332C>T ENSP00000496730.1:p.Arg1778Ter
ENST00000646647.2:c.5326C>T MANE Select ENSP00000495240.1:p.Arg1776Ter
ENST00000399982.6:c.5326C>T ENSP00000382863.2:p.Arg1776Ter
ENST00000430710.7:c.4489C>T ENSP00000406288.3:p.Arg1497Ter
ENST00000555301.1:n.39C>T
ENST00000557364.5:c.5326C>T ENSP00000451601.1:p.Arg1776Ter
NM_001170629.1:c.5326C>T NP_001164100.1:p.Arg1776Ter
NM_020920.3:c.4489C>T NP_065971.2:p.Arg1497Ter
NM_001170629.2:c.5326C>T MANE Select NP_001164100.1:p.Arg1776Ter
NM_020920.4:c.4489C>T NP_065971.2:p.Arg1497Ter
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