Canonical Allele Identifier: CA960920374

Gene: CHD8

Linked Data

• dbSNP Id: rs1887631370
• gnomAD v3: 14-21393322-T-C
• gnomAD v4: 14-21393322-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393322T>C , CM000676.2:g.21393322T>C	GRCh38
NC_000014.8:g.21861481T>C , CM000676.1:g.21861481T>C	GRCh37
NC_000014.7:g.20931321T>C	NCBI36
NG_021249.1:g.48977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5483-68A>G	ENSP00000406288.3:n.5483-68A>G
ENST00000555935.2:c.4020-68A>G
ENST00000557364.6:c.6320-68A>G	ENSP00000451601.1:n.6320-68A>G
ENST00000643469.1:c.6320-68A>G	ENSP00000495070.1:n.6320-68A>G
ENST00000645206.1:n.5476-68A>G
ENST00000645929.1:c.5483-68A>G	ENSP00000494402.1:n.5483-68A>G
ENST00000646647.2:c.6320-68A>G MANE Select	ENSP00000495240.1:n.6320-68A>G
ENST00000399982.6:c.6320-68A>G	ENSP00000382863.2:n.6320-68A>G
ENST00000430710.7:c.5483-68A>G	ENSP00000406288.3:n.5483-68A>G
ENST00000557364.5:c.6320-68A>G	ENSP00000451601.1:n.6320-68A>G
NM_001170629.1:c.6320-68A>G	NP_001164100.1:n.6320-68A>G
NM_020920.3:c.5483-68A>G	NP_065971.2:n.5483-68A>G
NM_001170629.2:c.6320-68A>G MANE Select	NP_001164100.1:n.6320-68A>G
NM_020920.4:c.5483-68A>G	NP_065971.2:n.5483-68A>G