Canonical Allele Identifier: CA388900611

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21403214T>C , CM000676.2:g.21403214T>C	GRCh38
NC_000014.8:g.21871373T>C , CM000676.1:g.21871373T>C	GRCh37
NC_000014.7:g.20941213T>C	NCBI36
NG_021249.1:g.39085A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.3519-2A>G MANE Select	NP_001164100.1:n.3519-2A>G
ENST00000646647.2:c.3519-2A>G MANE Select	ENSP00000495240.1:n.3519-2A>G
NM_001170629.1:c.3519-2A>G	NP_001164100.1:n.3519-2A>G
NM_020920.3:c.2682-2A>G	NP_065971.2:n.2682-2A>G
NM_020920.4:c.2682-2A>G	NP_065971.2:n.2682-2A>G
ENST00000399982.6:c.3519-2A>G	ENSP00000382863.2:n.3519-2A>G
ENST00000430710.7:c.2682-2A>G	ENSP00000406288.3:n.2682-2A>G
ENST00000430710.8:c.2682-2A>G	ENSP00000406288.3:n.2682-2A>G
ENST00000555935.1:c.1195-2A>G
ENST00000555935.2:c.1195-2A>G
ENST00000555962.5:n.151-172A>G
ENST00000555962.6:c.-110-172A>G	ENSP00000495174.1:n.-110-172A>G
ENST00000557364.5:c.3519-2A>G	ENSP00000451601.1:n.3519-2A>G
ENST00000557364.6:c.3519-2A>G	ENSP00000451601.1:n.3519-2A>G
ENST00000643469.1:c.3519-2A>G	ENSP00000495070.1:n.3519-2A>G
ENST00000645206.1:n.2033-2A>G
ENST00000645929.1:c.2682-2A>G	ENSP00000494402.1:n.2682-2A>G
ENST00000646340.1:c.3525-2A>G	ENSP00000496730.1:n.3525-2A>G