Canonical Allele Identifier: CA7090811

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1676412
• ClinVar RCV Id: RCV002221794
• dbSNP Id: rs749933003
• ExAC: 14:21861671 T / TGCTGGA
• gnomAD v2: 14-21861671-T-TGCTGGA
• gnomAD v3: 14-21393512-T-TGCTGGA
• gnomAD v4: 14-21393512-T-TGCTGGA
• MyVariant Identifiers: chr14:g.21861671_21861672insGCTGGA (hg19) ; chr14:g.21393512_21393513insGCTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393525_21393530dup , CM000676.2:g.21393525_21393530dup	GRCh38
NC_000014.8:g.21861684_21861689dup , CM000676.1:g.21861684_21861689dup	GRCh37
NC_000014.7:g.20931524_20931529dup	NCBI36
NG_021249.1:g.48781_48786dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5440_5445dup	ENSP00000406288.3:p.Ser1815_Thr1816insSerSer
ENST00000555935.2:c.3977_3982dup
ENST00000557364.6:c.6277_6282dup	ENSP00000451601.1:p.Ser2094_Thr2095insSerSer
ENST00000643469.1:c.6277_6282dup	ENSP00000495070.1:p.Ser2094_Thr2095insSerSer
ENST00000645206.1:n.5433_5438dup
ENST00000645929.1:c.5440_5445dup	ENSP00000494402.1:p.Ser1815_Thr1816insSerSer
ENST00000646647.2:c.6277_6282dup MANE Select	ENSP00000495240.1:p.Ser2094_Thr2095insSerSer
ENST00000399982.6:c.6277_6282dup	ENSP00000382863.2:p.Ser2094_Thr2095insSerSer
ENST00000430710.7:c.5440_5445dup	ENSP00000406288.3:p.Ser1815_Thr1816insSerSer
ENST00000557364.5:c.6277_6282dup	ENSP00000451601.1:p.Ser2094_Thr2095insSerSer
NM_001170629.1:c.6277_6282dup	NP_001164100.1:p.Ser2094_Thr2095insSerSer
NM_020920.3:c.5440_5445dup	NP_065971.2:p.Ser1815_Thr1816insSerSer
NM_001170629.2:c.6277_6282dup MANE Select	NP_001164100.1:p.Ser2094_Thr2095insSerSer
NM_020920.4:c.5440_5445dup	NP_065971.2:p.Ser1815_Thr1816insSerSer