Canonical Allele Identifier: CA388884535

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1707222
• ClinVar RCV Id: RCV002286138
• dbSNP Id: rs989306143
• gnomAD v2: 14-21897176-G-T
• gnomAD v3: 14-21429017-G-T
• gnomAD v4: 14-21429017-G-T
• MyVariant Identifiers: chr14:g.21897176G>T (hg19) ; chr14:g.21429017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429017G>T , CM000676.2:g.21429017G>T	GRCh38
NC_000014.8:g.21897176G>T , CM000676.1:g.21897176G>T	GRCh37
NC_000014.7:g.20967016G>T	NCBI36
NG_021249.1:g.13282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.325C>A	ENSP00000406288.3:p.Gln109Lys
ENST00000553651.2:n.2968C>A
ENST00000555962.6:c.-111+2794C>A	ENSP00000495174.1:n.-111+2794C>A
ENST00000557364.6:c.1162C>A	ENSP00000451601.1:p.Gln388Lys
ENST00000642518.1:c.325C>A	ENSP00000496722.1:p.Gln109Lys
ENST00000643048.1:n.1457C>A
ENST00000643469.1:c.1162C>A	ENSP00000495070.1:p.Gln388Lys
ENST00000645140.1:c.1074C>A
ENST00000645929.1:c.325C>A	ENSP00000494402.1:p.Gln109Lys
ENST00000646063.1:c.1249C>A	ENSP00000496565.1:p.Gln417Lys
ENST00000646340.1:c.1168C>A	ENSP00000496730.1:p.Gln390Lys
ENST00000646647.2:c.1162C>A MANE Select	ENSP00000495240.1:p.Gln388Lys
ENST00000399982.6:c.1162C>A	ENSP00000382863.2:p.Gln388Lys
ENST00000430710.7:c.325C>A	ENSP00000406288.3:p.Gln109Lys
ENST00000555962.5:n.150+2794C>A
ENST00000557364.5:c.1162C>A	ENSP00000451601.1:p.Gln388Lys
NM_001170629.1:c.1162C>A	NP_001164100.1:p.Gln388Lys
NM_020920.3:c.325C>A	NP_065971.2:p.Gln109Lys
NM_001170629.2:c.1162C>A MANE Select	NP_001164100.1:p.Gln388Lys
NM_020920.4:c.325C>A	NP_065971.2:p.Gln109Lys