Canonical Allele Identifier: CA7091701

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1661438
• ClinVar RCV Id: RCV002193075
• dbSNP Id: rs376100482
• ExAC: 14:21883941 G / C
• gnomAD v2: 14-21883941-G-C
• gnomAD v3: 14-21415782-G-C
• gnomAD v4: 14-21415782-G-C
• MyVariant Identifiers: chr14:g.21883941G>C (hg19) ; chr14:g.21415782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415782G>C , CM000676.2:g.21415782G>C	GRCh38
NC_000014.8:g.21883941G>C , CM000676.1:g.21883941G>C	GRCh37
NC_000014.7:g.20953781G>C	NCBI36
NG_021249.1:g.26517C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1005C>G	ENSP00000406288.3:p.Leu335=
ENST00000555962.6:c.-110-12740C>G	ENSP00000495174.1:n.-110-12740C>G
ENST00000557364.6:c.1842C>G	ENSP00000451601.1:p.Leu614=
ENST00000642914.1:n.825C>G
ENST00000643469.1:c.1842C>G	ENSP00000495070.1:p.Leu614=
ENST00000645140.1:c.1754C>G
ENST00000645206.1:n.356C>G
ENST00000645929.1:c.1005C>G	ENSP00000494402.1:p.Leu335=
ENST00000646340.1:c.1848C>G	ENSP00000496730.1:p.Leu616=
ENST00000646647.2:c.1842C>G MANE Select	ENSP00000495240.1:p.Leu614=
ENST00000399982.6:c.1842C>G	ENSP00000382863.2:p.Leu614=
ENST00000430710.7:c.1005C>G	ENSP00000406288.3:p.Leu335=
ENST00000555962.5:n.151-12740C>G
ENST00000557364.5:c.1842C>G	ENSP00000451601.1:p.Leu614=
NM_001170629.1:c.1842C>G	NP_001164100.1:p.Leu614=
NM_020920.3:c.1005C>G	NP_065971.2:p.Leu335=
NM_001170629.2:c.1842C>G MANE Select	NP_001164100.1:p.Leu614=
NM_020920.4:c.1005C>G	NP_065971.2:p.Leu335=