Canonical Allele Identifier: CA485000841

Gene: CHD8

Linked Data

• dbSNP Id: rs1365654930
• gnomAD v3: 14-21400507-T-C
• gnomAD v4: 14-21400507-T-C
• MyVariant Identifiers: chr14:g.21868666T>C (hg19) ; chr14:g.21400507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400507T>C , CM000676.2:g.21400507T>C	GRCh38
NC_000014.8:g.21868666T>C , CM000676.1:g.21868666T>C	GRCh37
NC_000014.7:g.20938506T>C	NCBI36
NG_021249.1:g.41792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3639A>G	ENSP00000406288.3:p.Leu1213=
ENST00000555935.2:c.2152A>G
ENST00000555962.6:c.265-200A>G	ENSP00000495174.1:n.265-200A>G
ENST00000557364.6:c.4476A>G	ENSP00000451601.1:p.Leu1492=
ENST00000643469.1:c.4476A>G	ENSP00000495070.1:p.Leu1492=
ENST00000645206.1:n.2990A>G
ENST00000645929.1:c.3639A>G	ENSP00000494402.1:p.Leu1213=
ENST00000646340.1:c.4482A>G	ENSP00000496730.1:p.Leu1494=
ENST00000646558.1:n.1292A>G
ENST00000646647.2:c.4476A>G MANE Select	ENSP00000495240.1:p.Leu1492=
ENST00000399982.6:c.4476A>G	ENSP00000382863.2:p.Leu1492=
ENST00000430710.7:c.3639A>G	ENSP00000406288.3:p.Leu1213=
ENST00000555935.1:c.2152A>G
ENST00000555962.5:n.525-200A>G
ENST00000557364.5:c.4476A>G	ENSP00000451601.1:p.Leu1492=
NM_001170629.1:c.4476A>G	NP_001164100.1:p.Leu1492=
NM_020920.3:c.3639A>G	NP_065971.2:p.Leu1213=
NM_001170629.2:c.4476A>G MANE Select	NP_001164100.1:p.Leu1492=
NM_020920.4:c.3639A>G	NP_065971.2:p.Leu1213=