Canonical Allele Identifier: CA484986718

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878037C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409878C>T , CM000676.2:g.21409878C>T	GRCh38
NC_000014.8:g.21878037C>T , CM000676.1:g.21878037C>T	GRCh37
NC_000014.7:g.20947877C>T	NCBI36
NG_021249.1:g.32421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1500G>A	ENSP00000406288.3:p.Gln500=
ENST00000555935.2:c.13G>A
ENST00000555962.6:c.-110-6836G>A	ENSP00000495174.1:n.-110-6836G>A
ENST00000557364.6:c.2337G>A	ENSP00000451601.1:p.Gln779=
ENST00000643469.1:c.2337G>A	ENSP00000495070.1:p.Gln779=
ENST00000645140.1:c.2249G>A
ENST00000645206.1:n.851G>A
ENST00000645929.1:c.1500G>A	ENSP00000494402.1:p.Gln500=
ENST00000646340.1:c.2343G>A	ENSP00000496730.1:p.Gln781=
ENST00000646647.2:c.2337G>A MANE Select	ENSP00000495240.1:p.Gln779=
ENST00000399982.6:c.2337G>A	ENSP00000382863.2:p.Gln779=
ENST00000430710.7:c.1500G>A	ENSP00000406288.3:p.Gln500=
ENST00000554384.1:n.205G>A
ENST00000555935.1:c.13G>A
ENST00000555962.5:n.151-6836G>A
ENST00000557364.5:c.2337G>A	ENSP00000451601.1:p.Gln779=
NM_001170629.1:c.2337G>A	NP_001164100.1:p.Gln779=
NM_020920.3:c.1500G>A	NP_065971.2:p.Gln500=
NM_001170629.2:c.2337G>A MANE Select	NP_001164100.1:p.Gln779=
NM_020920.4:c.1500G>A	NP_065971.2:p.Gln500=