Canonical Allele Identifier: CA388884164

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21863203A>G (hg19) ; chr14:g.21395044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395044A>G , CM000676.2:g.21395044A>G	GRCh38
NC_000014.8:g.21863203A>G , CM000676.1:g.21863203A>G	GRCh37
NC_000014.7:g.20933043A>G	NCBI36
NG_021249.1:g.47255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4421T>C	ENSP00000406288.3:p.Val1474Ala
ENST00000555935.2:c.2958T>C
ENST00000555962.6:c.*643T>C	ENSP00000495174.1:n.*643T>C
ENST00000557364.6:c.5258T>C	ENSP00000451601.1:p.Val1753Ala
ENST00000643469.1:c.5258T>C	ENSP00000495070.1:p.Val1753Ala
ENST00000645206.1:n.4414T>C
ENST00000645929.1:c.4421T>C	ENSP00000494402.1:p.Val1474Ala
ENST00000646340.1:c.5264T>C	ENSP00000496730.1:p.Val1755Ala
ENST00000646647.2:c.5258T>C MANE Select	ENSP00000495240.1:p.Val1753Ala
ENST00000399982.6:c.5258T>C	ENSP00000382863.2:p.Val1753Ala
ENST00000430710.7:c.4421T>C	ENSP00000406288.3:p.Val1474Ala
ENST00000555962.5:n.1212T>C
ENST00000557364.5:c.5258T>C	ENSP00000451601.1:p.Val1753Ala
NM_001170629.1:c.5258T>C	NP_001164100.1:p.Val1753Ala
NM_020920.3:c.4421T>C	NP_065971.2:p.Val1474Ala
NM_001170629.2:c.5258T>C MANE Select	NP_001164100.1:p.Val1753Ala
NM_020920.4:c.4421T>C	NP_065971.2:p.Val1474Ala