Canonical Allele Identifier: CA388895907

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21869231C>G (hg19) ; chr14:g.21401072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401072C>G , CM000676.2:g.21401072C>G	GRCh38
NC_000014.8:g.21869231C>G , CM000676.1:g.21869231C>G	GRCh37
NC_000014.7:g.20939071C>G	NCBI36
NG_021249.1:g.41227G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.3337-1G>C	ENSP00000406288.3:n.3337-1G>C
ENST00000555935.2:c.1850-1G>C
ENST00000555962.6:c.265-765G>C	ENSP00000495174.1:n.265-765G>C
ENST00000557364.6:c.4174-1G>C	ENSP00000451601.1:n.4174-1G>C
ENST00000643469.1:c.4174-1G>C	ENSP00000495070.1:n.4174-1G>C
ENST00000645206.1:n.2688-1G>C
ENST00000645929.1:c.3337-1G>C	ENSP00000494402.1:n.3337-1G>C
ENST00000646340.1:c.4180-1G>C	ENSP00000496730.1:n.4180-1G>C
ENST00000646558.1:n.728-1G>C
ENST00000646647.2:c.4174-1G>C MANE Select	ENSP00000495240.1:n.4174-1G>C
ENST00000399982.6:c.4174-1G>C	ENSP00000382863.2:n.4174-1G>C
ENST00000430710.7:c.3337-1G>C	ENSP00000406288.3:n.3337-1G>C
ENST00000555935.1:c.1850-1G>C
ENST00000555962.5:n.525-765G>C
ENST00000557364.5:c.4174-1G>C	ENSP00000451601.1:n.4174-1G>C
NM_001170629.1:c.4174-1G>C	NP_001164100.1:n.4174-1G>C
NM_020920.3:c.3337-1G>C	NP_065971.2:n.3337-1G>C
NM_001170629.2:c.4174-1G>C MANE Select	NP_001164100.1:n.4174-1G>C
NM_020920.4:c.3337-1G>C	NP_065971.2:n.3337-1G>C