Canonical Allele Identifier: CA388893972

Gene: CHD8

Linked Data

• COSMIC: COSM5478653 ; COSM5478654
• MyVariant Identifiers: chr14:g.21868683G>T (hg19) ; chr14:g.21400524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400524G>T , CM000676.2:g.21400524G>T	GRCh38
NC_000014.8:g.21868683G>T , CM000676.1:g.21868683G>T	GRCh37
NC_000014.7:g.20938523G>T	NCBI36
NG_021249.1:g.41775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3622C>A	ENSP00000406288.3:p.Leu1208Ile
ENST00000555935.2:c.2135C>A
ENST00000555962.6:c.265-217C>A	ENSP00000495174.1:n.265-217C>A
ENST00000557364.6:c.4459C>A	ENSP00000451601.1:p.Leu1487Ile
ENST00000643469.1:c.4459C>A	ENSP00000495070.1:p.Leu1487Ile
ENST00000645206.1:n.2973C>A
ENST00000645929.1:c.3622C>A	ENSP00000494402.1:p.Leu1208Ile
ENST00000646340.1:c.4465C>A	ENSP00000496730.1:p.Leu1489Ile
ENST00000646558.1:n.1275C>A
ENST00000646647.2:c.4459C>A MANE Select	ENSP00000495240.1:p.Leu1487Ile
ENST00000399982.6:c.4459C>A	ENSP00000382863.2:p.Leu1487Ile
ENST00000430710.7:c.3622C>A	ENSP00000406288.3:p.Leu1208Ile
ENST00000555935.1:c.2135C>A
ENST00000555962.5:n.525-217C>A
ENST00000557364.5:c.4459C>A	ENSP00000451601.1:p.Leu1487Ile
NM_001170629.1:c.4459C>A	NP_001164100.1:p.Leu1487Ile
NM_020920.3:c.3622C>A	NP_065971.2:p.Leu1208Ile
NM_001170629.2:c.4459C>A MANE Select	NP_001164100.1:p.Leu1487Ile
NM_020920.4:c.3622C>A	NP_065971.2:p.Leu1208Ile