Canonical Allele Identifier: CA7091599

Gene: CHD8

Linked Data

• dbSNP Id: rs761902244
• ExAC: 14:21878067 C / G
• gnomAD v2: 14-21878067-C-G
• gnomAD v3: 14-21409908-C-G
• gnomAD v4: 14-21409908-C-G
• MyVariant Identifiers: chr14:g.21878067C>G (hg19) ; chr14:g.21409908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409908C>G , CM000676.2:g.21409908C>G	GRCh38
NC_000014.8:g.21878067C>G , CM000676.1:g.21878067C>G	GRCh37
NC_000014.7:g.20947907C>G	NCBI36
NG_021249.1:g.32391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1470G>C	ENSP00000406288.3:p.Glu490Asp
ENST00000555962.6:c.-110-6866G>C	ENSP00000495174.1:n.-110-6866G>C
ENST00000557364.6:c.2307G>C	ENSP00000451601.1:p.Glu769Asp
ENST00000643469.1:c.2307G>C	ENSP00000495070.1:p.Glu769Asp
ENST00000645140.1:c.2219G>C
ENST00000645206.1:n.821G>C
ENST00000645929.1:c.1470G>C	ENSP00000494402.1:p.Glu490Asp
ENST00000646340.1:c.2313G>C	ENSP00000496730.1:p.Glu771Asp
ENST00000646647.2:c.2307G>C MANE Select	ENSP00000495240.1:p.Glu769Asp
ENST00000399982.6:c.2307G>C	ENSP00000382863.2:p.Glu769Asp
ENST00000430710.7:c.1470G>C	ENSP00000406288.3:p.Glu490Asp
ENST00000554384.1:n.175G>C
ENST00000555962.5:n.151-6866G>C
ENST00000557364.5:c.2307G>C	ENSP00000451601.1:p.Glu769Asp
NM_001170629.1:c.2307G>C	NP_001164100.1:p.Glu769Asp
NM_020920.3:c.1470G>C	NP_065971.2:p.Glu490Asp
NM_001170629.2:c.2307G>C MANE Select	NP_001164100.1:p.Glu769Asp
NM_020920.4:c.1470G>C	NP_065971.2:p.Glu490Asp