Canonical Allele Identifier: CA658798165

Gene: CHD8

Linked Data

• ClinVar Variation Id: 545056
• ClinVar RCV Id: RCV000656275
• dbSNP Id: rs1555314378
• MyVariant Identifiers: chr14:g.21868673_21868674insT (hg19) ; chr14:g.21400514_21400515insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400514_21400515insT , CM000676.2:g.21400514_21400515insT	GRCh38
NC_000014.8:g.21868673_21868674insT , CM000676.1:g.21868673_21868674insT	GRCh37
NC_000014.7:g.20938513_20938514insT	NCBI36
NG_021249.1:g.41784_41785insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3631_3632insA	ENSP00000406288.3:p.Cys1211Ter
ENST00000555935.2:c.2144_2145insA
ENST00000555962.6:c.265-208_265-207insA	ENSP00000495174.1:n.265-208_265-207insA
ENST00000557364.6:c.4468_4469insA	ENSP00000451601.1:p.Cys1490Ter
ENST00000643469.1:c.4468_4469insA	ENSP00000495070.1:p.Cys1490Ter
ENST00000645206.1:n.2982_2983insA
ENST00000645929.1:c.3631_3632insA	ENSP00000494402.1:p.Cys1211Ter
ENST00000646340.1:c.4474_4475insA	ENSP00000496730.1:p.Cys1492Ter
ENST00000646558.1:n.1284_1285insA
ENST00000646647.2:c.4468_4469insA MANE Select	ENSP00000495240.1:p.Cys1490Ter
ENST00000399982.6:c.4468_4469insA	ENSP00000382863.2:p.Cys1490Ter
ENST00000430710.7:c.3631_3632insA	ENSP00000406288.3:p.Cys1211Ter
ENST00000555935.1:c.2144_2145insA
ENST00000555962.5:n.525-208_525-207insA
ENST00000557364.5:c.4468_4469insA	ENSP00000451601.1:p.Cys1490Ter
NM_001170629.1:c.4468_4469insA	NP_001164100.1:p.Cys1490Ter
NM_020920.3:c.3631_3632insA	NP_065971.2:p.Cys1211Ter
NM_001170629.2:c.4468_4469insA MANE Select	NP_001164100.1:p.Cys1490Ter
NM_020920.4:c.3631_3632insA	NP_065971.2:p.Cys1211Ter