Canonical Allele Identifier: CA388883864

Gene: CHD8

Linked Data

• gnomAD v4: 14-21394930-C-G
• MyVariant Identifiers: chr14:g.21863089C>G (hg19) ; chr14:g.21394930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394930C>G , CM000676.2:g.21394930C>G	GRCh38
NC_000014.8:g.21863089C>G , CM000676.1:g.21863089C>G	GRCh37
NC_000014.7:g.20932929C>G	NCBI36
NG_021249.1:g.47369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4535G>C	ENSP00000406288.3:p.Arg1512Pro
ENST00000555935.2:c.3072G>C
ENST00000555962.6:c.*757G>C	ENSP00000495174.1:n.*757G>C
ENST00000557364.6:c.5372G>C	ENSP00000451601.1:p.Arg1791Pro
ENST00000643469.1:c.5372G>C	ENSP00000495070.1:p.Arg1791Pro
ENST00000645206.1:n.4528G>C
ENST00000645929.1:c.4535G>C	ENSP00000494402.1:p.Arg1512Pro
ENST00000646340.1:c.5378G>C	ENSP00000496730.1:p.Arg1793Pro
ENST00000646647.2:c.5372G>C MANE Select	ENSP00000495240.1:p.Arg1791Pro
ENST00000399982.6:c.5372G>C	ENSP00000382863.2:p.Arg1791Pro
ENST00000430710.7:c.4535G>C	ENSP00000406288.3:p.Arg1512Pro
ENST00000555301.1:n.85G>C
ENST00000557364.5:c.5372G>C	ENSP00000451601.1:p.Arg1791Pro
NM_001170629.1:c.5372G>C	NP_001164100.1:p.Arg1791Pro
NM_020920.3:c.4535G>C	NP_065971.2:p.Arg1512Pro
NM_001170629.2:c.5372G>C MANE Select	NP_001164100.1:p.Arg1791Pro
NM_020920.4:c.4535G>C	NP_065971.2:p.Arg1512Pro