Canonical Allele Identifier: CA388880497

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393736-T-C
• MyVariant Identifiers: chr14:g.21861895T>C (hg19) ; chr14:g.21393736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393736T>C , CM000676.2:g.21393736T>C	GRCh38
NC_000014.8:g.21861895T>C , CM000676.1:g.21861895T>C	GRCh37
NC_000014.7:g.20931735T>C	NCBI36
NG_021249.1:g.48563A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5222A>G	ENSP00000406288.3:p.Glu1741Gly
ENST00000555935.2:c.3759A>G
ENST00000557364.6:c.6059A>G	ENSP00000451601.1:p.Glu2020Gly
ENST00000643469.1:c.6059A>G	ENSP00000495070.1:p.Glu2020Gly
ENST00000645206.1:n.5215A>G
ENST00000645929.1:c.5222A>G	ENSP00000494402.1:p.Glu1741Gly
ENST00000646647.2:c.6059A>G MANE Select	ENSP00000495240.1:p.Glu2020Gly
ENST00000399982.6:c.6059A>G	ENSP00000382863.2:p.Glu2020Gly
ENST00000430710.7:c.5222A>G	ENSP00000406288.3:p.Glu1741Gly
ENST00000555301.1:n.853A>G
ENST00000557364.5:c.6059A>G	ENSP00000451601.1:p.Glu2020Gly
NM_001170629.1:c.6059A>G	NP_001164100.1:p.Glu2020Gly
NM_020920.3:c.5222A>G	NP_065971.2:p.Glu1741Gly
NM_001170629.2:c.6059A>G MANE Select	NP_001164100.1:p.Glu2020Gly
NM_020920.4:c.5222A>G	NP_065971.2:p.Glu1741Gly