Canonical Allele Identifier: CA612384339

Gene: CHD8

Linked Data

• dbSNP Id: rs1463818888
• gnomAD v2: 14-21873779-T-A
• gnomAD v3: 14-21405620-T-A
• gnomAD v4: 14-21405620-T-A
• MyVariant Identifiers: chr14:g.21873779T>A (hg19) ; chr14:g.21405620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405620T>A , CM000676.2:g.21405620T>A	GRCh38
NC_000014.8:g.21873779T>A , CM000676.1:g.21873779T>A	GRCh37
NC_000014.7:g.20943619T>A	NCBI36
NG_021249.1:g.36679A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2214+101A>T	ENSP00000406288.3:n.2214+101A>T
ENST00000555935.2:c.727+101A>T
ENST00000555962.6:c.-110-2578A>T	ENSP00000495174.1:n.-110-2578A>T
ENST00000557364.6:c.3051+101A>T	ENSP00000451601.1:n.3051+101A>T
ENST00000643469.1:c.3051+101A>T	ENSP00000495070.1:n.3051+101A>T
ENST00000645140.1:c.2963+101A>T
ENST00000645206.1:n.1565+101A>T
ENST00000645929.1:c.2214+101A>T	ENSP00000494402.1:n.2214+101A>T
ENST00000646340.1:c.3057+101A>T	ENSP00000496730.1:n.3057+101A>T
ENST00000646647.2:c.3051+101A>T MANE Select	ENSP00000495240.1:n.3051+101A>T
ENST00000399982.6:c.3051+101A>T	ENSP00000382863.2:n.3051+101A>T
ENST00000430710.7:c.2214+101A>T	ENSP00000406288.3:n.2214+101A>T
ENST00000555935.1:c.727+101A>T
ENST00000555962.5:n.151-2578A>T
ENST00000557364.5:c.3051+101A>T	ENSP00000451601.1:n.3051+101A>T
NM_001170629.1:c.3051+101A>T	NP_001164100.1:n.3051+101A>T
NM_020920.3:c.2214+101A>T	NP_065971.2:n.2214+101A>T
NM_001170629.2:c.3051+101A>T MANE Select	NP_001164100.1:n.3051+101A>T
NM_020920.4:c.2214+101A>T	NP_065971.2:n.2214+101A>T