Canonical Allele Identifier: CA7091276

Gene: CHD8

Linked Data

• dbSNP Id: rs764909729
• ExAC: 14:21869254 G / A
• gnomAD v2: 14-21869254-G-A
• gnomAD v4: 14-21401095-G-A
• MyVariant Identifiers: chr14:g.21869254G>A (hg19) ; chr14:g.21401095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401095G>A , CM000676.2:g.21401095G>A	GRCh38
NC_000014.8:g.21869254G>A , CM000676.1:g.21869254G>A	GRCh37
NC_000014.7:g.20939094G>A	NCBI36
NG_021249.1:g.41204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.3337-24C>T	ENSP00000406288.3:n.3337-24C>T
ENST00000555935.2:c.1850-24C>T
ENST00000555962.6:c.265-788C>T	ENSP00000495174.1:n.265-788C>T
ENST00000557364.6:c.4174-24C>T	ENSP00000451601.1:n.4174-24C>T
ENST00000643469.1:c.4174-24C>T	ENSP00000495070.1:n.4174-24C>T
ENST00000645206.1:n.2688-24C>T
ENST00000645929.1:c.3337-24C>T	ENSP00000494402.1:n.3337-24C>T
ENST00000646340.1:c.4180-24C>T	ENSP00000496730.1:n.4180-24C>T
ENST00000646558.1:n.728-24C>T
ENST00000646647.2:c.4174-24C>T MANE Select	ENSP00000495240.1:n.4174-24C>T
ENST00000399982.6:c.4174-24C>T	ENSP00000382863.2:n.4174-24C>T
ENST00000430710.7:c.3337-24C>T	ENSP00000406288.3:n.3337-24C>T
ENST00000555935.1:c.1850-24C>T
ENST00000555962.5:n.525-788C>T
ENST00000557364.5:c.4174-24C>T	ENSP00000451601.1:n.4174-24C>T
NM_001170629.1:c.4174-24C>T	NP_001164100.1:n.4174-24C>T
NM_020920.3:c.3337-24C>T	NP_065971.2:n.3337-24C>T
NM_001170629.2:c.4174-24C>T MANE Select	NP_001164100.1:n.4174-24C>T
NM_020920.4:c.3337-24C>T	NP_065971.2:n.3337-24C>T