Canonical Allele Identifier: CA388889225

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21899448G>T (hg19) ; chr14:g.21431289G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21431289G>T , CM000676.2:g.21431289G>T	GRCh38
NC_000014.8:g.21899448G>T , CM000676.1:g.21899448G>T	GRCh37
NC_000014.7:g.20969288G>T	NCBI36
NG_021249.1:g.11010C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.6+522C>A	ENSP00000406288.3:n.6+522C>A
ENST00000553651.2:n.696C>A
ENST00000555962.6:c.-111+522C>A	ENSP00000495174.1:n.-111+522C>A
ENST00000557364.6:c.355C>A	ENSP00000451601.1:p.Leu119Ile
ENST00000642518.1:c.6+522C>A	ENSP00000496722.1:n.6+522C>A
ENST00000643048.1:n.650C>A
ENST00000643469.1:c.355C>A	ENSP00000495070.1:p.Leu119Ile
ENST00000645140.1:c.267C>A
ENST00000645929.1:c.6+522C>A	ENSP00000494402.1:n.6+522C>A
ENST00000646063.1:c.442C>A	ENSP00000496565.1:p.Leu148Ile
ENST00000646340.1:c.361C>A	ENSP00000496730.1:p.Leu121Ile
ENST00000646647.2:c.355C>A MANE Select	ENSP00000495240.1:p.Leu119Ile
ENST00000399982.6:c.355C>A	ENSP00000382863.2:p.Leu119Ile
ENST00000430710.7:c.6+522C>A	ENSP00000406288.3:n.6+522C>A
ENST00000553283.1:c.97-1954C>A	ENSP00000450860.1:n.97-1954C>A
ENST00000553622.5:c.280C>A	ENSP00000450957.1:p.Leu94Ile
ENST00000555962.5:n.150+522C>A
ENST00000557364.5:c.355C>A	ENSP00000451601.1:p.Leu119Ile
NM_001170629.1:c.355C>A	NP_001164100.1:p.Leu119Ile
NM_020920.3:c.6+522C>A	NP_065971.2:n.6+522C>A
NM_001170629.2:c.355C>A MANE Select	NP_001164100.1:p.Leu119Ile
NM_020920.4:c.6+522C>A	NP_065971.2:n.6+522C>A