Canonical Allele Identifier: CA388880541

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2133371
• ClinVar RCV Id: RCV003064026
• MyVariant Identifiers: chr14:g.21861917C>T (hg19) ; chr14:g.21393758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393758C>T , CM000676.2:g.21393758C>T	GRCh38
NC_000014.8:g.21861917C>T , CM000676.1:g.21861917C>T	GRCh37
NC_000014.7:g.20931757C>T	NCBI36
NG_021249.1:g.48541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5200G>A	ENSP00000406288.3:p.Ala1734Thr
ENST00000555935.2:c.3737G>A
ENST00000557364.6:c.6037G>A	ENSP00000451601.1:p.Ala2013Thr
ENST00000643469.1:c.6037G>A	ENSP00000495070.1:p.Ala2013Thr
ENST00000645206.1:n.5193G>A
ENST00000645929.1:c.5200G>A	ENSP00000494402.1:p.Ala1734Thr
ENST00000646647.2:c.6037G>A MANE Select	ENSP00000495240.1:p.Ala2013Thr
ENST00000399982.6:c.6037G>A	ENSP00000382863.2:p.Ala2013Thr
ENST00000430710.7:c.5200G>A	ENSP00000406288.3:p.Ala1734Thr
ENST00000555301.1:n.831G>A
ENST00000557364.5:c.6037G>A	ENSP00000451601.1:p.Ala2013Thr
NM_001170629.1:c.6037G>A	NP_001164100.1:p.Ala2013Thr
NM_020920.3:c.5200G>A	NP_065971.2:p.Ala1734Thr
NM_001170629.2:c.6037G>A MANE Select	NP_001164100.1:p.Ala2013Thr
NM_020920.4:c.5200G>A	NP_065971.2:p.Ala1734Thr