Canonical Allele Identifier: CA388885028

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897313A>C (hg19) ; chr14:g.21429154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429154A>C , CM000676.2:g.21429154A>C	GRCh38
NC_000014.8:g.21897313A>C , CM000676.1:g.21897313A>C	GRCh37
NC_000014.7:g.20967153A>C	NCBI36
NG_021249.1:g.13145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.188T>G	ENSP00000406288.3:p.Leu63Arg
ENST00000553651.2:n.2831T>G
ENST00000555962.6:c.-111+2657T>G	ENSP00000495174.1:n.-111+2657T>G
ENST00000557364.6:c.1025T>G	ENSP00000451601.1:p.Leu342Arg
ENST00000642518.1:c.188T>G	ENSP00000496722.1:p.Leu63Arg
ENST00000643048.1:n.1320T>G
ENST00000643469.1:c.1025T>G	ENSP00000495070.1:p.Leu342Arg
ENST00000645140.1:c.937T>G
ENST00000645929.1:c.188T>G	ENSP00000494402.1:p.Leu63Arg
ENST00000646063.1:c.1112T>G	ENSP00000496565.1:p.Leu371Arg
ENST00000646340.1:c.1031T>G	ENSP00000496730.1:p.Leu344Arg
ENST00000646647.2:c.1025T>G MANE Select	ENSP00000495240.1:p.Leu342Arg
ENST00000399982.6:c.1025T>G	ENSP00000382863.2:p.Leu342Arg
ENST00000430710.7:c.188T>G	ENSP00000406288.3:p.Leu63Arg
ENST00000553283.1:c.278T>G	ENSP00000450860.1:p.Leu93Arg
ENST00000555962.5:n.150+2657T>G
ENST00000557364.5:c.1025T>G	ENSP00000451601.1:p.Leu342Arg
NM_001170629.1:c.1025T>G	NP_001164100.1:p.Leu342Arg
NM_020920.3:c.188T>G	NP_065971.2:p.Leu63Arg
NM_001170629.2:c.1025T>G MANE Select	NP_001164100.1:p.Leu342Arg
NM_020920.4:c.188T>G	NP_065971.2:p.Leu63Arg