Canonical Allele Identifier: CA484994791

Gene: CHD8

Linked Data

• dbSNP Id: rs763311496
• gnomAD v4: 14-21393534-G-T
• MyVariant Identifiers: chr14:g.21861693G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393534G>T , CM000676.2:g.21393534G>T	GRCh38
NC_000014.8:g.21861693G>T , CM000676.1:g.21861693G>T	GRCh37
NC_000014.7:g.20931533G>T	NCBI36
NG_021249.1:g.48765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5424C>A	ENSP00000406288.3:p.Ser1808=
ENST00000555935.2:c.3961C>A
ENST00000557364.6:c.6261C>A	ENSP00000451601.1:p.Ser2087=
ENST00000643469.1:c.6261C>A	ENSP00000495070.1:p.Ser2087=
ENST00000645206.1:n.5417C>A
ENST00000645929.1:c.5424C>A	ENSP00000494402.1:p.Ser1808=
ENST00000646647.2:c.6261C>A MANE Select	ENSP00000495240.1:p.Ser2087=
ENST00000399982.6:c.6261C>A	ENSP00000382863.2:p.Ser2087=
ENST00000430710.7:c.5424C>A	ENSP00000406288.3:p.Ser1808=
ENST00000557364.5:c.6261C>A	ENSP00000451601.1:p.Ser2087=
NM_001170629.1:c.6261C>A	NP_001164100.1:p.Ser2087=
NM_020920.3:c.5424C>A	NP_065971.2:p.Ser1808=
NM_001170629.2:c.6261C>A MANE Select	NP_001164100.1:p.Ser2087=
NM_020920.4:c.5424C>A	NP_065971.2:p.Ser1808=