Canonical Allele Identifier: CA484992054

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897492A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429333A>C , CM000676.2:g.21429333A>C	GRCh38
NC_000014.8:g.21897492A>C , CM000676.1:g.21897492A>C	GRCh37
NC_000014.7:g.20967332A>C	NCBI36
NG_021249.1:g.12966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.9T>G	ENSP00000406288.3:p.Gly3=
ENST00000553651.2:n.2652T>G
ENST00000555962.6:c.-111+2478T>G	ENSP00000495174.1:n.-111+2478T>G
ENST00000557364.6:c.846T>G	ENSP00000451601.1:p.Gly282=
ENST00000642518.1:c.9T>G	ENSP00000496722.1:p.Gly3=
ENST00000643048.1:n.1141T>G
ENST00000643469.1:c.846T>G	ENSP00000495070.1:p.Gly282=
ENST00000645140.1:c.758T>G
ENST00000645929.1:c.9T>G	ENSP00000494402.1:p.Gly3=
ENST00000646063.1:c.933T>G	ENSP00000496565.1:p.Gly311=
ENST00000646340.1:c.852T>G	ENSP00000496730.1:p.Gly284=
ENST00000646647.2:c.846T>G MANE Select	ENSP00000495240.1:p.Gly282=
ENST00000399982.6:c.846T>G	ENSP00000382863.2:p.Gly282=
ENST00000430710.7:c.9T>G	ENSP00000406288.3:p.Gly3=
ENST00000553283.1:c.99T>G	ENSP00000450860.1:p.Gly33=
ENST00000555962.5:n.150+2478T>G
ENST00000557364.5:c.846T>G	ENSP00000451601.1:p.Gly282=
NM_001170629.1:c.846T>G	NP_001164100.1:p.Gly282=
NM_020920.3:c.9T>G	NP_065971.2:p.Gly3=
NM_001170629.2:c.846T>G MANE Select	NP_001164100.1:p.Gly282=
NM_020920.4:c.9T>G	NP_065971.2:p.Gly3=