Canonical Allele Identifier: CA388876729

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878126T>G (hg19) ; chr14:g.21409967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409967T>G , CM000676.2:g.21409967T>G	GRCh38
NC_000014.8:g.21878126T>G , CM000676.1:g.21878126T>G	GRCh37
NC_000014.7:g.20947966T>G	NCBI36
NG_021249.1:g.32332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1411A>C	ENSP00000406288.3:p.Lys471Gln
ENST00000555962.6:c.-110-6925A>C	ENSP00000495174.1:n.-110-6925A>C
ENST00000557364.6:c.2248A>C	ENSP00000451601.1:p.Lys750Gln
ENST00000643469.1:c.2248A>C	ENSP00000495070.1:p.Lys750Gln
ENST00000645140.1:c.2160A>C
ENST00000645206.1:n.762A>C
ENST00000645929.1:c.1411A>C	ENSP00000494402.1:p.Lys471Gln
ENST00000646340.1:c.2254A>C	ENSP00000496730.1:p.Lys752Gln
ENST00000646647.2:c.2248A>C MANE Select	ENSP00000495240.1:p.Lys750Gln
ENST00000399982.6:c.2248A>C	ENSP00000382863.2:p.Lys750Gln
ENST00000430710.7:c.1411A>C	ENSP00000406288.3:p.Lys471Gln
ENST00000554384.1:n.116A>C
ENST00000555962.5:n.151-6925A>C
ENST00000557364.5:c.2248A>C	ENSP00000451601.1:p.Lys750Gln
NM_001170629.1:c.2248A>C	NP_001164100.1:p.Lys750Gln
NM_020920.3:c.1411A>C	NP_065971.2:p.Lys471Gln
NM_001170629.2:c.2248A>C MANE Select	NP_001164100.1:p.Lys750Gln
NM_020920.4:c.1411A>C	NP_065971.2:p.Lys471Gln