Canonical Allele Identifier: CA16607584
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 390288
ClinVar RCV Id: RCV000432820
dbSNP Id: rs1057523712
MyVariant Identifiers: chr14:g.21870214C>G (hg19) chr14:g.21402055C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21402055C>G , CM000676.2:g.21402055C>G GRCh38
NC_000014.8:g.21870214C>G , CM000676.1:g.21870214C>G GRCh37
NC_000014.7:g.20940054C>G NCBI36
NG_021249.1:g.40244G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.3127G>C ENSP00000406288.3:p.Gly1043Arg
ENST00000555935.2:c.1640G>C
ENST00000555962.6:c.166G>C ENSP00000495174.1:p.Gly56Arg
ENST00000557364.6:c.3964G>C ENSP00000451601.1:p.Gly1322Arg
ENST00000643469.1:c.3964G>C ENSP00000495070.1:p.Gly1322Arg
ENST00000645206.1:n.2478G>C
ENST00000645929.1:c.3127G>C ENSP00000494402.1:p.Gly1043Arg
ENST00000646340.1:c.3970G>C ENSP00000496730.1:p.Gly1324Arg
ENST00000646558.1:n.75G>C
ENST00000646647.2:c.3964G>C MANE Select ENSP00000495240.1:p.Gly1322Arg
ENST00000399982.6:c.3964G>C ENSP00000382863.2:p.Gly1322Arg
ENST00000430710.7:c.3127G>C ENSP00000406288.3:p.Gly1043Arg
ENST00000555935.1:c.1640G>C
ENST00000555962.5:n.426G>C
ENST00000557364.5:c.3964G>C ENSP00000451601.1:p.Gly1322Arg
NM_001170629.1:c.3964G>C NP_001164100.1:p.Gly1322Arg
NM_020920.3:c.3127G>C NP_065971.2:p.Gly1043Arg
NM_001170629.2:c.3964G>C MANE Select NP_001164100.1:p.Gly1322Arg
NM_020920.4:c.3127G>C NP_065971.2:p.Gly1043Arg
Search 100 bp 5'
Search 100 bp 3'