Canonical Allele Identifier: CA7090807

Gene: CHD8

Linked Data

• ClinVar Variation Id: 588887
• ClinVar RCV Id: RCV000873349 ; RCV002315381
• dbSNP Id: rs118140634
• ExAC: 14:21861642 C / T
• gnomAD v2: 14-21861642-C-T
• gnomAD v3: 14-21393483-C-T
• gnomAD v4: 14-21393483-C-T
• MyVariant Identifiers: chr14:g.21861642C>T (hg19) ; chr14:g.21393483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393483C>T , CM000676.2:g.21393483C>T	GRCh38
NC_000014.8:g.21861642C>T , CM000676.1:g.21861642C>T	GRCh37
NC_000014.7:g.20931482C>T	NCBI36
NG_021249.1:g.48816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5475G>A	ENSP00000406288.3:p.Glu1825=
ENST00000555935.2:c.4012G>A
ENST00000557364.6:c.6312G>A	ENSP00000451601.1:p.Glu2104=
ENST00000643469.1:c.6312G>A	ENSP00000495070.1:p.Glu2104=
ENST00000645206.1:n.5468G>A
ENST00000645929.1:c.5475G>A	ENSP00000494402.1:p.Glu1825=
ENST00000646647.2:c.6312G>A MANE Select	ENSP00000495240.1:p.Glu2104=
ENST00000399982.6:c.6312G>A	ENSP00000382863.2:p.Glu2104=
ENST00000430710.7:c.5475G>A	ENSP00000406288.3:p.Glu1825=
ENST00000557364.5:c.6312G>A	ENSP00000451601.1:p.Glu2104=
NM_001170629.1:c.6312G>A	NP_001164100.1:p.Glu2104=
NM_020920.3:c.5475G>A	NP_065971.2:p.Glu1825=
NM_001170629.2:c.6312G>A MANE Select	NP_001164100.1:p.Glu2104=
NM_020920.4:c.5475G>A	NP_065971.2:p.Glu1825=