Canonical Allele Identifier: CA388880446

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393713-G-A
• MyVariant Identifiers: chr14:g.21861872G>A (hg19) ; chr14:g.21393713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393713G>A , CM000676.2:g.21393713G>A	GRCh38
NC_000014.8:g.21861872G>A , CM000676.1:g.21861872G>A	GRCh37
NC_000014.7:g.20931712G>A	NCBI36
NG_021249.1:g.48586C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5245C>T	ENSP00000406288.3:p.His1749Tyr
ENST00000555935.2:c.3782C>T
ENST00000557364.6:c.6082C>T	ENSP00000451601.1:p.His2028Tyr
ENST00000643469.1:c.6082C>T	ENSP00000495070.1:p.His2028Tyr
ENST00000645206.1:n.5238C>T
ENST00000645929.1:c.5245C>T	ENSP00000494402.1:p.His1749Tyr
ENST00000646647.2:c.6082C>T MANE Select	ENSP00000495240.1:p.His2028Tyr
ENST00000399982.6:c.6082C>T	ENSP00000382863.2:p.His2028Tyr
ENST00000430710.7:c.5245C>T	ENSP00000406288.3:p.His1749Tyr
ENST00000555301.1:n.876C>T
ENST00000557364.5:c.6082C>T	ENSP00000451601.1:p.His2028Tyr
NM_001170629.1:c.6082C>T	NP_001164100.1:p.His2028Tyr
NM_020920.3:c.5245C>T	NP_065971.2:p.His1749Tyr
NM_001170629.2:c.6082C>T MANE Select	NP_001164100.1:p.His2028Tyr
NM_020920.4:c.5245C>T	NP_065971.2:p.His1749Tyr