Canonical Allele Identifier: CA388876403

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878026G>C (hg19) ; chr14:g.21409867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409867G>C , CM000676.2:g.21409867G>C	GRCh38
NC_000014.8:g.21878026G>C , CM000676.1:g.21878026G>C	GRCh37
NC_000014.7:g.20947866G>C	NCBI36
NG_021249.1:g.32432C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1511C>G	ENSP00000406288.3:p.Pro504Arg
ENST00000555935.2:c.24C>G
ENST00000555962.6:c.-110-6825C>G	ENSP00000495174.1:n.-110-6825C>G
ENST00000557364.6:c.2348C>G	ENSP00000451601.1:p.Pro783Arg
ENST00000643469.1:c.2348C>G	ENSP00000495070.1:p.Pro783Arg
ENST00000645140.1:c.2260C>G
ENST00000645206.1:n.862C>G
ENST00000645929.1:c.1511C>G	ENSP00000494402.1:p.Pro504Arg
ENST00000646340.1:c.2354C>G	ENSP00000496730.1:p.Pro785Arg
ENST00000646647.2:c.2348C>G MANE Select	ENSP00000495240.1:p.Pro783Arg
ENST00000399982.6:c.2348C>G	ENSP00000382863.2:p.Pro783Arg
ENST00000430710.7:c.1511C>G	ENSP00000406288.3:p.Pro504Arg
ENST00000554384.1:n.216C>G
ENST00000555935.1:c.24C>G
ENST00000555962.5:n.151-6825C>G
ENST00000557364.5:c.2348C>G	ENSP00000451601.1:p.Pro783Arg
NM_001170629.1:c.2348C>G	NP_001164100.1:p.Pro783Arg
NM_020920.3:c.1511C>G	NP_065971.2:p.Pro504Arg
NM_001170629.2:c.2348C>G MANE Select	NP_001164100.1:p.Pro783Arg
NM_020920.4:c.1511C>G	NP_065971.2:p.Pro504Arg