Canonical Allele Identifier: CA960919295
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs1888408381

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21409800dup , CM000676.2:g.21409800dup GRCh38
NC_000014.8:g.21877959dup , CM000676.1:g.21877959dup GRCh37
NC_000014.7:g.20947799dup NCBI36
NG_021249.1:g.32504dup

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.1527+56dup ENSP00000406288.3:n.1527+56dup
ENST00000555935.2:c.40+56dup
ENST00000555962.6:c.-110-6753dup ENSP00000495174.1:n.-110-6753dup
ENST00000557364.6:c.2364+56dup ENSP00000451601.1:n.2364+56dup
ENST00000643469.1:c.2364+56dup ENSP00000495070.1:n.2364+56dup
ENST00000645140.1:c.2276+56dup
ENST00000645206.1:n.878+56dup
ENST00000645929.1:c.1527+56dup ENSP00000494402.1:n.1527+56dup
ENST00000646340.1:c.2370+56dup ENSP00000496730.1:n.2370+56dup
ENST00000646647.2:c.2364+56dup MANE Select ENSP00000495240.1:n.2364+56dup
ENST00000399982.6:c.2364+56dup ENSP00000382863.2:n.2364+56dup
ENST00000430710.7:c.1527+56dup ENSP00000406288.3:n.1527+56dup
ENST00000554384.1:n.232+56dup
ENST00000555935.1:c.40+56dup
ENST00000555962.5:n.151-6753dup
ENST00000557364.5:c.2364+56dup ENSP00000451601.1:n.2364+56dup
NM_001170629.1:c.2364+56dup NP_001164100.1:n.2364+56dup
NM_020920.3:c.1527+56dup NP_065971.2:n.1527+56dup
NM_001170629.2:c.2364+56dup MANE Select NP_001164100.1:n.2364+56dup
NM_020920.4:c.1527+56dup NP_065971.2:n.1527+56dup