Canonical Allele Identifier: CA484991712

Gene: CHD8

Linked Data

• dbSNP Id: rs1343876300
• gnomAD v2: 14-21897354-C-T
• MyVariant Identifiers: chr14:g.21897354C>T (hg19) ; chr14:g.21429195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429195C>T , CM000676.2:g.21429195C>T	GRCh38
NC_000014.8:g.21897354C>T , CM000676.1:g.21897354C>T	GRCh37
NC_000014.7:g.20967194C>T	NCBI36
NG_021249.1:g.13104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.147G>A	ENSP00000406288.3:p.Lys49=
ENST00000553651.2:n.2790G>A
ENST00000555962.6:c.-111+2616G>A	ENSP00000495174.1:n.-111+2616G>A
ENST00000557364.6:c.984G>A	ENSP00000451601.1:p.Lys328=
ENST00000642518.1:c.147G>A	ENSP00000496722.1:p.Lys49=
ENST00000643048.1:n.1279G>A
ENST00000643469.1:c.984G>A	ENSP00000495070.1:p.Lys328=
ENST00000645140.1:c.896G>A
ENST00000645929.1:c.147G>A	ENSP00000494402.1:p.Lys49=
ENST00000646063.1:c.1071G>A	ENSP00000496565.1:p.Lys357=
ENST00000646340.1:c.990G>A	ENSP00000496730.1:p.Lys330=
ENST00000646647.2:c.984G>A MANE Select	ENSP00000495240.1:p.Lys328=
ENST00000399982.6:c.984G>A	ENSP00000382863.2:p.Lys328=
ENST00000430710.7:c.147G>A	ENSP00000406288.3:p.Lys49=
ENST00000553283.1:c.237G>A	ENSP00000450860.1:p.Lys79=
ENST00000555962.5:n.150+2616G>A
ENST00000557364.5:c.984G>A	ENSP00000451601.1:p.Lys328=
NM_001170629.1:c.984G>A	NP_001164100.1:p.Lys328=
NM_020920.3:c.147G>A	NP_065971.2:p.Lys49=
NM_001170629.2:c.984G>A MANE Select	NP_001164100.1:p.Lys328=
NM_020920.4:c.147G>A	NP_065971.2:p.Lys49=