Canonical Allele Identifier: CA16619836
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 422245
ClinVar RCV Id: RCV000484621 RCV000709954 RCV000709955 RCV001265457
dbSNP Id: rs1064795655
MyVariant Identifiers: chr14:g.21871822C>A (hg19) chr14:g.21403663C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21403663C>A , CM000676.2:g.21403663C>A GRCh38
NC_000014.8:g.21871822C>A , CM000676.1:g.21871822C>A GRCh37
NC_000014.7:g.20941662C>A NCBI36
NG_021249.1:g.38636G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.2471G>T ENSP00000406288.3:p.Gly824Val
ENST00000555935.2:c.984G>T
ENST00000555962.6:c.-110-621G>T ENSP00000495174.1:n.-110-621G>T
ENST00000557364.6:c.3308G>T ENSP00000451601.1:p.Gly1103Val
ENST00000643469.1:c.3308G>T ENSP00000495070.1:p.Gly1103Val
ENST00000645206.1:n.1822G>T
ENST00000645929.1:c.2471G>T ENSP00000494402.1:p.Gly824Val
ENST00000646340.1:c.3314G>T ENSP00000496730.1:p.Gly1105Val
ENST00000646647.2:c.3308G>T MANE Select ENSP00000495240.1:p.Gly1103Val
ENST00000399982.6:c.3308G>T ENSP00000382863.2:p.Gly1103Val
ENST00000430710.7:c.2471G>T ENSP00000406288.3:p.Gly824Val
ENST00000555935.1:c.984G>T
ENST00000555962.5:n.151-621G>T
ENST00000557364.5:c.3308G>T ENSP00000451601.1:p.Gly1103Val
NM_001170629.1:c.3308G>T NP_001164100.1:p.Gly1103Val
NM_020920.3:c.2471G>T NP_065971.2:p.Gly824Val
NM_001170629.2:c.3308G>T MANE Select NP_001164100.1:p.Gly1103Val
NM_020920.4:c.2471G>T NP_065971.2:p.Gly824Val
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