Canonical Allele Identifier: CA484992490

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21899449T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21431290T>G , CM000676.2:g.21431290T>G	GRCh38
NC_000014.8:g.21899449T>G , CM000676.1:g.21899449T>G	GRCh37
NC_000014.7:g.20969289T>G	NCBI36
NG_021249.1:g.11009A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.6+521A>C	ENSP00000406288.3:n.6+521A>C
ENST00000553651.2:n.695A>C
ENST00000555962.6:c.-111+521A>C	ENSP00000495174.1:n.-111+521A>C
ENST00000557364.6:c.354A>C	ENSP00000451601.1:p.Gly118=
ENST00000642518.1:c.6+521A>C	ENSP00000496722.1:n.6+521A>C
ENST00000643048.1:n.649A>C
ENST00000643469.1:c.354A>C	ENSP00000495070.1:p.Gly118=
ENST00000645140.1:c.266A>C
ENST00000645929.1:c.6+521A>C	ENSP00000494402.1:n.6+521A>C
ENST00000646063.1:c.441A>C	ENSP00000496565.1:p.Gly147=
ENST00000646340.1:c.360A>C	ENSP00000496730.1:p.Gly120=
ENST00000646647.2:c.354A>C MANE Select	ENSP00000495240.1:p.Gly118=
ENST00000399982.6:c.354A>C	ENSP00000382863.2:p.Gly118=
ENST00000430710.7:c.6+521A>C	ENSP00000406288.3:n.6+521A>C
ENST00000553283.1:c.97-1955A>C	ENSP00000450860.1:n.97-1955A>C
ENST00000553622.5:c.279A>C	ENSP00000450957.1:p.Gly93=
ENST00000555962.5:n.150+521A>C
ENST00000557364.5:c.354A>C	ENSP00000451601.1:p.Gly118=
NM_001170629.1:c.354A>C	NP_001164100.1:p.Gly118=
NM_020920.3:c.6+521A>C	NP_065971.2:n.6+521A>C
NM_001170629.2:c.354A>C MANE Select	NP_001164100.1:p.Gly118=
NM_020920.4:c.6+521A>C	NP_065971.2:n.6+521A>C