Canonical Allele Identifier: CA484991684

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897342C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429183C>T , CM000676.2:g.21429183C>T	GRCh38
NC_000014.8:g.21897342C>T , CM000676.1:g.21897342C>T	GRCh37
NC_000014.7:g.20967182C>T	NCBI36
NG_021249.1:g.13116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.159G>A	ENSP00000406288.3:p.Gly53=
ENST00000553651.2:n.2802G>A
ENST00000555962.6:c.-111+2628G>A	ENSP00000495174.1:n.-111+2628G>A
ENST00000557364.6:c.996G>A	ENSP00000451601.1:p.Gly332=
ENST00000642518.1:c.159G>A	ENSP00000496722.1:p.Gly53=
ENST00000643048.1:n.1291G>A
ENST00000643469.1:c.996G>A	ENSP00000495070.1:p.Gly332=
ENST00000645140.1:c.908G>A
ENST00000645929.1:c.159G>A	ENSP00000494402.1:p.Gly53=
ENST00000646063.1:c.1083G>A	ENSP00000496565.1:p.Gly361=
ENST00000646340.1:c.1002G>A	ENSP00000496730.1:p.Gly334=
ENST00000646647.2:c.996G>A MANE Select	ENSP00000495240.1:p.Gly332=
ENST00000399982.6:c.996G>A	ENSP00000382863.2:p.Gly332=
ENST00000430710.7:c.159G>A	ENSP00000406288.3:p.Gly53=
ENST00000553283.1:c.249G>A	ENSP00000450860.1:p.Gly83=
ENST00000555962.5:n.150+2628G>A
ENST00000557364.5:c.996G>A	ENSP00000451601.1:p.Gly332=
NM_001170629.1:c.996G>A	NP_001164100.1:p.Gly332=
NM_020920.3:c.159G>A	NP_065971.2:p.Gly53=
NM_001170629.2:c.996G>A MANE Select	NP_001164100.1:p.Gly332=
NM_020920.4:c.159G>A	NP_065971.2:p.Gly53=