Canonical Allele Identifier: CA388880501

Gene: CHD8

Linked Data

• dbSNP Id: rs1461026899
• gnomAD v2: 14-21861896-C-G
• gnomAD v3: 14-21393737-C-G
• gnomAD v4: 14-21393737-C-G
• MyVariant Identifiers: chr14:g.21861896C>G (hg19) ; chr14:g.21393737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393737C>G , CM000676.2:g.21393737C>G	GRCh38
NC_000014.8:g.21861896C>G , CM000676.1:g.21861896C>G	GRCh37
NC_000014.7:g.20931736C>G	NCBI36
NG_021249.1:g.48562G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5221G>C	ENSP00000406288.3:p.Glu1741Gln
ENST00000555935.2:c.3758G>C
ENST00000557364.6:c.6058G>C	ENSP00000451601.1:p.Glu2020Gln
ENST00000643469.1:c.6058G>C	ENSP00000495070.1:p.Glu2020Gln
ENST00000645206.1:n.5214G>C
ENST00000645929.1:c.5221G>C	ENSP00000494402.1:p.Glu1741Gln
ENST00000646647.2:c.6058G>C MANE Select	ENSP00000495240.1:p.Glu2020Gln
ENST00000399982.6:c.6058G>C	ENSP00000382863.2:p.Glu2020Gln
ENST00000430710.7:c.5221G>C	ENSP00000406288.3:p.Glu1741Gln
ENST00000555301.1:n.852G>C
ENST00000557364.5:c.6058G>C	ENSP00000451601.1:p.Glu2020Gln
NM_001170629.1:c.6058G>C	NP_001164100.1:p.Glu2020Gln
NM_020920.3:c.5221G>C	NP_065971.2:p.Glu1741Gln
NM_001170629.2:c.6058G>C MANE Select	NP_001164100.1:p.Glu2020Gln
NM_020920.4:c.5221G>C	NP_065971.2:p.Glu1741Gln