Canonical Allele Identifier: CA257545859

Gene: CHD8

Linked Data

• dbSNP Id: rs776713016
• gnomAD v2: 14-21875188-G-A
• gnomAD v3: 14-21407029-G-A
• gnomAD v4: 14-21407029-G-A
• MyVariant Identifiers: chr14:g.21875188G>A (hg19) ; chr14:g.21407029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21407029G>A , CM000676.2:g.21407029G>A	GRCh38
NC_000014.8:g.21875188G>A , CM000676.1:g.21875188G>A	GRCh37
NC_000014.7:g.20945028G>A	NCBI36
NG_021249.1:g.35270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1897C>T	ENSP00000406288.3:p.Arg633Cys
ENST00000555935.2:c.410C>T
ENST00000555962.6:c.-110-3987C>T	ENSP00000495174.1:n.-110-3987C>T
ENST00000557364.6:c.2734C>T	ENSP00000451601.1:p.Arg912Cys
ENST00000643469.1:c.2734C>T	ENSP00000495070.1:p.Arg912Cys
ENST00000645140.1:c.2646C>T
ENST00000645206.1:n.1248C>T
ENST00000645929.1:c.1897C>T	ENSP00000494402.1:p.Arg633Cys
ENST00000646340.1:c.2740C>T	ENSP00000496730.1:p.Arg914Cys
ENST00000646647.2:c.2734C>T MANE Select	ENSP00000495240.1:p.Arg912Cys
ENST00000399982.6:c.2734C>T	ENSP00000382863.2:p.Arg912Cys
ENST00000430710.7:c.1897C>T	ENSP00000406288.3:p.Arg633Cys
ENST00000555935.1:c.410C>T
ENST00000555962.5:n.151-3987C>T
ENST00000557364.5:c.2734C>T	ENSP00000451601.1:p.Arg912Cys
NM_001170629.1:c.2734C>T	NP_001164100.1:p.Arg912Cys
NM_020920.3:c.1897C>T	NP_065971.2:p.Arg633Cys
NM_001170629.2:c.2734C>T MANE Select	NP_001164100.1:p.Arg912Cys
NM_020920.4:c.1897C>T	NP_065971.2:p.Arg633Cys