Canonical Allele Identifier: CA7091506

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2906937
• ClinVar RCV Id: RCV003734430
• dbSNP Id: rs752864980
• ExAC: 14:21875159 G / A
• gnomAD v2: 14-21875159-G-A
• gnomAD v3: 14-21407000-G-A
• gnomAD v4: 14-21407000-G-A
• MyVariant Identifiers: chr14:g.21875159G>A (hg19) ; chr14:g.21407000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21407000G>A , CM000676.2:g.21407000G>A	GRCh38
NC_000014.8:g.21875159G>A , CM000676.1:g.21875159G>A	GRCh37
NC_000014.7:g.20944999G>A	NCBI36
NG_021249.1:g.35299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1926C>T	ENSP00000406288.3:p.Asp642=
ENST00000555935.2:c.439C>T
ENST00000555962.6:c.-110-3958C>T	ENSP00000495174.1:n.-110-3958C>T
ENST00000557364.6:c.2763C>T	ENSP00000451601.1:p.Asp921=
ENST00000643469.1:c.2763C>T	ENSP00000495070.1:p.Asp921=
ENST00000645140.1:c.2675C>T
ENST00000645206.1:n.1277C>T
ENST00000645929.1:c.1926C>T	ENSP00000494402.1:p.Asp642=
ENST00000646340.1:c.2769C>T	ENSP00000496730.1:p.Asp923=
ENST00000646647.2:c.2763C>T MANE Select	ENSP00000495240.1:p.Asp921=
ENST00000399982.6:c.2763C>T	ENSP00000382863.2:p.Asp921=
ENST00000430710.7:c.1926C>T	ENSP00000406288.3:p.Asp642=
ENST00000555935.1:c.439C>T
ENST00000555962.5:n.151-3958C>T
ENST00000557364.5:c.2763C>T	ENSP00000451601.1:p.Asp921=
NM_001170629.1:c.2763C>T	NP_001164100.1:p.Asp921=
NM_020920.3:c.1926C>T	NP_065971.2:p.Asp642=
NM_001170629.2:c.2763C>T MANE Select	NP_001164100.1:p.Asp921=
NM_020920.4:c.1926C>T	NP_065971.2:p.Asp642=