Canonical Allele Identifier: CA16619837

Gene: CHD8

Linked Data

• ClinVar Variation Id: 421506
• ClinVar RCV Id: RCV000481917 ; RCV002470871
• dbSNP Id: rs1013103711
• gnomAD v2: 14-21875158-C-T
• gnomAD v4: 14-21406999-C-T
• MyVariant Identifiers: chr14:g.21875158C>T (hg19) ; chr14:g.21406999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406999C>T , CM000676.2:g.21406999C>T	GRCh38
NC_000014.8:g.21875158C>T , CM000676.1:g.21875158C>T	GRCh37
NC_000014.7:g.20944998C>T	NCBI36
NG_021249.1:g.35300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1927G>A	ENSP00000406288.3:p.Ala643Thr
ENST00000555935.2:c.440G>A
ENST00000555962.6:c.-110-3957G>A	ENSP00000495174.1:n.-110-3957G>A
ENST00000557364.6:c.2764G>A	ENSP00000451601.1:p.Ala922Thr
ENST00000643469.1:c.2764G>A	ENSP00000495070.1:p.Ala922Thr
ENST00000645140.1:c.2676G>A
ENST00000645206.1:n.1278G>A
ENST00000645929.1:c.1927G>A	ENSP00000494402.1:p.Ala643Thr
ENST00000646340.1:c.2770G>A	ENSP00000496730.1:p.Ala924Thr
ENST00000646647.2:c.2764G>A MANE Select	ENSP00000495240.1:p.Ala922Thr
ENST00000399982.6:c.2764G>A	ENSP00000382863.2:p.Ala922Thr
ENST00000430710.7:c.1927G>A	ENSP00000406288.3:p.Ala643Thr
ENST00000555935.1:c.440G>A
ENST00000555962.5:n.151-3957G>A
ENST00000557364.5:c.2764G>A	ENSP00000451601.1:p.Ala922Thr
NM_001170629.1:c.2764G>A	NP_001164100.1:p.Ala922Thr
NM_020920.3:c.1927G>A	NP_065971.2:p.Ala643Thr
NM_001170629.2:c.2764G>A MANE Select	NP_001164100.1:p.Ala922Thr
NM_020920.4:c.1927G>A	NP_065971.2:p.Ala643Thr