Canonical Allele Identifier: CA10603396
Gene: CHD8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 280830
ClinVar RCV Id: RCV000338868
dbSNP Id: rs886041968

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21405780G>A , CM000676.2:g.21405780G>A GRCh38
NC_000014.8:g.21873939G>A , CM000676.1:g.21873939G>A GRCh37
NC_000014.7:g.20943779G>A NCBI36
NG_021249.1:g.36519C>T

Transcript Alleles

HGVS Amino-acid change
NM_001170629.1:c.2992C>T VV NP_001164100.1:p.Gln998Ter
NM_020920.3:c.2155C>T VV NP_065971.2:p.Gln719Ter
ENST00000399982.6:c.2992C>T ENSP00000382863.2:p.Gln998Ter
ENST00000430710.7:c.2155C>T ENSP00000406288.3:p.Gln719Ter
ENST00000555935.1:n.668C>T
ENST00000555962.5:n.151-2738C>T
ENST00000557364.5:c.2992C>T ENSP00000451601.1:p.Gln998Ter