Canonical Allele Identifier: CA388876820

Gene: CHD8

Linked Data

• dbSNP Id: rs996150988
• gnomAD v2: 14-21878144-C-T
• gnomAD v3: 14-21409985-C-T
• gnomAD v4: 14-21409985-C-T
• MyVariant Identifiers: chr14:g.21878144C>T (hg19) ; chr14:g.21409985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409985C>T , CM000676.2:g.21409985C>T	GRCh38
NC_000014.8:g.21878144C>T , CM000676.1:g.21878144C>T	GRCh37
NC_000014.7:g.20947984C>T	NCBI36
NG_021249.1:g.32314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1393G>A	ENSP00000406288.3:p.Val465Ile
ENST00000555962.6:c.-110-6943G>A	ENSP00000495174.1:n.-110-6943G>A
ENST00000557364.6:c.2230G>A	ENSP00000451601.1:p.Val744Ile
ENST00000643469.1:c.2230G>A	ENSP00000495070.1:p.Val744Ile
ENST00000645140.1:c.2142G>A
ENST00000645206.1:n.744G>A
ENST00000645929.1:c.1393G>A	ENSP00000494402.1:p.Val465Ile
ENST00000646340.1:c.2236G>A	ENSP00000496730.1:p.Val746Ile
ENST00000646647.2:c.2230G>A MANE Select	ENSP00000495240.1:p.Val744Ile
ENST00000399982.6:c.2230G>A	ENSP00000382863.2:p.Val744Ile
ENST00000430710.7:c.1393G>A	ENSP00000406288.3:p.Val465Ile
ENST00000554384.1:n.98G>A
ENST00000555962.5:n.151-6943G>A
ENST00000557364.5:c.2230G>A	ENSP00000451601.1:p.Val744Ile
NM_001170629.1:c.2230G>A	NP_001164100.1:p.Val744Ile
NM_020920.3:c.1393G>A	NP_065971.2:p.Val465Ile
NM_001170629.2:c.2230G>A MANE Select	NP_001164100.1:p.Val744Ile
NM_020920.4:c.1393G>A	NP_065971.2:p.Val465Ile