Canonical Allele Identifier: CA7090815

Gene: CHD8

Linked Data

• ClinVar Variation Id: 3002594
• ClinVar RCV Id: RCV003860185
• dbSNP Id: rs763311496
• ExAC: 14:21861693 G / A
• gnomAD v2: 14-21861693-G-A
• gnomAD v4: 14-21393534-G-A
• MyVariant Identifiers: chr14:g.21861693G>A (hg19) ; chr14:g.21393534G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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