Canonical Allele Identifier: CA7091860

Gene: CHD8

Linked Data

• dbSNP Id: rs532763366
• ExAC: 14:21897331 T / C
• gnomAD v2: 14-21897331-T-C
• gnomAD v3: 14-21429172-T-C
• gnomAD v4: 14-21429172-T-C
• MyVariant Identifiers: chr14:g.21897331T>C (hg19) ; chr14:g.21429172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429172T>C , CM000676.2:g.21429172T>C	GRCh38
NC_000014.8:g.21897331T>C , CM000676.1:g.21897331T>C	GRCh37
NC_000014.7:g.20967171T>C	NCBI36
NG_021249.1:g.13127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.170A>G	ENSP00000406288.3:p.Lys57Arg
ENST00000553651.2:n.2813A>G
ENST00000555962.6:c.-111+2639A>G	ENSP00000495174.1:n.-111+2639A>G
ENST00000557364.6:c.1007A>G	ENSP00000451601.1:p.Lys336Arg
ENST00000642518.1:c.170A>G	ENSP00000496722.1:p.Lys57Arg
ENST00000643048.1:n.1302A>G
ENST00000643469.1:c.1007A>G	ENSP00000495070.1:p.Lys336Arg
ENST00000645140.1:c.919A>G
ENST00000645929.1:c.170A>G	ENSP00000494402.1:p.Lys57Arg
ENST00000646063.1:c.1094A>G	ENSP00000496565.1:p.Lys365Arg
ENST00000646340.1:c.1013A>G	ENSP00000496730.1:p.Lys338Arg
ENST00000646647.2:c.1007A>G MANE Select	ENSP00000495240.1:p.Lys336Arg
ENST00000399982.6:c.1007A>G	ENSP00000382863.2:p.Lys336Arg
ENST00000430710.7:c.170A>G	ENSP00000406288.3:p.Lys57Arg
ENST00000553283.1:c.260A>G	ENSP00000450860.1:p.Lys87Arg
ENST00000555962.5:n.150+2639A>G
ENST00000557364.5:c.1007A>G	ENSP00000451601.1:p.Lys336Arg
NM_001170629.1:c.1007A>G	NP_001164100.1:p.Lys336Arg
NM_020920.3:c.170A>G	NP_065971.2:p.Lys57Arg
NM_001170629.2:c.1007A>G MANE Select	NP_001164100.1:p.Lys336Arg
NM_020920.4:c.170A>G	NP_065971.2:p.Lys57Arg