Canonical Allele Identifier: CA388894191

Gene: CHD8

Linked Data

• gnomAD v4: 14-21400565-C-A
• MyVariant Identifiers: chr14:g.21868724C>A (hg19) ; chr14:g.21400565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400565C>A , CM000676.2:g.21400565C>A	GRCh38
NC_000014.8:g.21868724C>A , CM000676.1:g.21868724C>A	GRCh37
NC_000014.7:g.20938564C>A	NCBI36
NG_021249.1:g.41734G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3581G>T	ENSP00000406288.3:p.Arg1194Leu
ENST00000555935.2:c.2094G>T
ENST00000555962.6:c.265-258G>T	ENSP00000495174.1:n.265-258G>T
ENST00000557364.6:c.4418G>T	ENSP00000451601.1:p.Arg1473Leu
ENST00000643469.1:c.4418G>T	ENSP00000495070.1:p.Arg1473Leu
ENST00000645206.1:n.2932G>T
ENST00000645929.1:c.3581G>T	ENSP00000494402.1:p.Arg1194Leu
ENST00000646340.1:c.4424G>T	ENSP00000496730.1:p.Arg1475Leu
ENST00000646558.1:n.1234G>T
ENST00000646647.2:c.4418G>T MANE Select	ENSP00000495240.1:p.Arg1473Leu
ENST00000399982.6:c.4418G>T	ENSP00000382863.2:p.Arg1473Leu
ENST00000430710.7:c.3581G>T	ENSP00000406288.3:p.Arg1194Leu
ENST00000555935.1:c.2094G>T
ENST00000555962.5:n.525-258G>T
ENST00000557364.5:c.4418G>T	ENSP00000451601.1:p.Arg1473Leu
NM_001170629.1:c.4418G>T	NP_001164100.1:p.Arg1473Leu
NM_020920.3:c.3581G>T	NP_065971.2:p.Arg1194Leu
NM_001170629.2:c.4418G>T MANE Select	NP_001164100.1:p.Arg1473Leu
NM_020920.4:c.3581G>T	NP_065971.2:p.Arg1194Leu