Canonical Allele Identifier: CA484986717
Gene: CHD8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21878034T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409875T>G , CM000676.2:g.21409875T>G GRCh38
NC_000014.8:g.21878034T>G , CM000676.1:g.21878034T>G GRCh37
NC_000014.7:g.20947874T>G NCBI36
NG_021249.1:g.32424A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1503A>C ENSP00000406288.3:p.Ser501=
ENST00000555935.2:c.16A>C
ENST00000555962.6:c.-110-6833A>C ENSP00000495174.1:n.-110-6833A>C
ENST00000557364.6:c.2340A>C ENSP00000451601.1:p.Ser780=
ENST00000643469.1:c.2340A>C ENSP00000495070.1:p.Ser780=
ENST00000645140.1:c.2252A>C
ENST00000645206.1:n.854A>C
ENST00000645929.1:c.1503A>C ENSP00000494402.1:p.Ser501=
ENST00000646340.1:c.2346A>C ENSP00000496730.1:p.Ser782=
ENST00000646647.2:c.2340A>C MANE Select ENSP00000495240.1:p.Ser780=
ENST00000399982.6:c.2340A>C ENSP00000382863.2:p.Ser780=
ENST00000430710.7:c.1503A>C ENSP00000406288.3:p.Ser501=
ENST00000554384.1:n.208A>C
ENST00000555935.1:c.16A>C
ENST00000555962.5:n.151-6833A>C
ENST00000557364.5:c.2340A>C ENSP00000451601.1:p.Ser780=
NM_001170629.1:c.2340A>C NP_001164100.1:p.Ser780=
NM_020920.3:c.1503A>C NP_065971.2:p.Ser501=
NM_001170629.2:c.2340A>C MANE Select NP_001164100.1:p.Ser780=
NM_020920.4:c.1503A>C NP_065971.2:p.Ser501=