Canonical Allele Identifier: CA7091592
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 589248
dbSNP Id: rs191366877

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409853C>T , CM000676.2:g.21409853C>T GRCh38
NC_000014.8:g.21878012C>T , CM000676.1:g.21878012C>T GRCh37
NC_000014.7:g.20947852C>T NCBI36
NG_021249.1:g.32446G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1525G>A ENSP00000406288.3:p.Val509Met
ENST00000555935.2:c.38G>A
ENST00000555962.6:c.-110-6811G>A ENSP00000495174.1:n.-110-6811G>A
ENST00000557364.6:c.2362G>A ENSP00000451601.1:p.Val788Met
ENST00000643469.1:c.2362G>A ENSP00000495070.1:p.Val788Met
ENST00000645140.1:c.2274G>A
ENST00000645206.1:n.876G>A
ENST00000645929.1:c.1525G>A ENSP00000494402.1:p.Val509Met
ENST00000646340.1:c.2368G>A ENSP00000496730.1:p.Val790Met
ENST00000646647.2:c.2362G>A MANE Select ENSP00000495240.1:p.Val788Met
ENST00000399982.6:c.2362G>A ENSP00000382863.2:p.Val788Met
ENST00000430710.7:c.1525G>A ENSP00000406288.3:p.Val509Met
ENST00000554384.1:n.230G>A
ENST00000555935.1:c.38G>A
ENST00000555962.5:n.151-6811G>A
ENST00000557364.5:c.2362G>A ENSP00000451601.1:p.Val788Met
NM_001170629.1:c.2362G>A NP_001164100.1:p.Val788Met
NM_020920.3:c.1525G>A NP_065971.2:p.Val509Met
NM_001170629.2:c.2362G>A MANE Select NP_001164100.1:p.Val788Met
NM_020920.4:c.1525G>A NP_065971.2:p.Val509Met