Canonical Allele Identifier: CA484994804

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393540-G-C
• MyVariant Identifiers: chr14:g.21861699G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393540G>C , CM000676.2:g.21393540G>C	GRCh38
NC_000014.8:g.21861699G>C , CM000676.1:g.21861699G>C	GRCh37
NC_000014.7:g.20931539G>C	NCBI36
NG_021249.1:g.48759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5418C>G	ENSP00000406288.3:p.Ser1806=
ENST00000555935.2:c.3955C>G
ENST00000557364.6:c.6255C>G	ENSP00000451601.1:p.Ser2085=
ENST00000643469.1:c.6255C>G	ENSP00000495070.1:p.Ser2085=
ENST00000645206.1:n.5411C>G
ENST00000645929.1:c.5418C>G	ENSP00000494402.1:p.Ser1806=
ENST00000646647.2:c.6255C>G MANE Select	ENSP00000495240.1:p.Ser2085=
ENST00000399982.6:c.6255C>G	ENSP00000382863.2:p.Ser2085=
ENST00000430710.7:c.5418C>G	ENSP00000406288.3:p.Ser1806=
ENST00000557364.5:c.6255C>G	ENSP00000451601.1:p.Ser2085=
NM_001170629.1:c.6255C>G	NP_001164100.1:p.Ser2085=
NM_020920.3:c.5418C>G	NP_065971.2:p.Ser1806=
NM_001170629.2:c.6255C>G MANE Select	NP_001164100.1:p.Ser2085=
NM_020920.4:c.5418C>G	NP_065971.2:p.Ser1806=