Canonical Allele Identifier: CA7091496

Gene: CHD8

Linked Data

• dbSNP Id: rs768147245
• ExAC: 14:21875005 T / G
• gnomAD v2: 14-21875005-T-G
• gnomAD v4: 14-21406846-T-G
• MyVariant Identifiers: chr14:g.21875005T>G (hg19) ; chr14:g.21406846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406846T>G , CM000676.2:g.21406846T>G	GRCh38
NC_000014.8:g.21875005T>G , CM000676.1:g.21875005T>G	GRCh37
NC_000014.7:g.20944845T>G	NCBI36
NG_021249.1:g.35453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2070+10A>C	ENSP00000406288.3:n.2070+10A>C
ENST00000555935.2:c.583+10A>C
ENST00000555962.6:c.-110-3804A>C	ENSP00000495174.1:n.-110-3804A>C
ENST00000557364.6:c.2907+10A>C	ENSP00000451601.1:n.2907+10A>C
ENST00000643469.1:c.2907+10A>C	ENSP00000495070.1:n.2907+10A>C
ENST00000645140.1:c.2819+10A>C
ENST00000645206.1:n.1421+10A>C
ENST00000645929.1:c.2070+10A>C	ENSP00000494402.1:n.2070+10A>C
ENST00000646340.1:c.2913+10A>C	ENSP00000496730.1:n.2913+10A>C
ENST00000646647.2:c.2907+10A>C MANE Select	ENSP00000495240.1:n.2907+10A>C
ENST00000399982.6:c.2907+10A>C	ENSP00000382863.2:n.2907+10A>C
ENST00000430710.7:c.2070+10A>C	ENSP00000406288.3:n.2070+10A>C
ENST00000555935.1:c.583+10A>C
ENST00000555962.5:n.151-3804A>C
ENST00000557364.5:c.2907+10A>C	ENSP00000451601.1:n.2907+10A>C
NM_001170629.1:c.2907+10A>C	NP_001164100.1:n.2907+10A>C
NM_020920.3:c.2070+10A>C	NP_065971.2:n.2070+10A>C
NM_001170629.2:c.2907+10A>C MANE Select	NP_001164100.1:n.2907+10A>C
NM_020920.4:c.2070+10A>C	NP_065971.2:n.2070+10A>C