Canonical Allele Identifier: CA612384348

Gene: CHD8

Linked Data

• dbSNP Id: rs1315312485
• gnomAD v2: 14-21873871-A-AT
• gnomAD v4: 14-21405712-A-AT
• MyVariant Identifiers: chr14:g.21873871_21873872insT (hg19) ; chr14:g.21405712_21405713insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405715dup , CM000676.2:g.21405715dup	GRCh38
NC_000014.8:g.21873874dup , CM000676.1:g.21873874dup	GRCh37
NC_000014.7:g.20943714dup	NCBI36
NG_021249.1:g.36586dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2214+8dup	ENSP00000406288.3:n.2214+8dup
ENST00000555935.2:c.727+8dup
ENST00000555962.6:c.-110-2671dup	ENSP00000495174.1:n.-110-2671dup
ENST00000557364.6:c.3051+8dup	ENSP00000451601.1:n.3051+8dup
ENST00000643469.1:c.3051+8dup	ENSP00000495070.1:n.3051+8dup
ENST00000645140.1:c.2963+8dup
ENST00000645206.1:n.1565+8dup
ENST00000645929.1:c.2214+8dup	ENSP00000494402.1:n.2214+8dup
ENST00000646340.1:c.3057+8dup	ENSP00000496730.1:n.3057+8dup
ENST00000646647.2:c.3051+8dup MANE Select	ENSP00000495240.1:n.3051+8dup
ENST00000399982.6:c.3051+8dup	ENSP00000382863.2:n.3051+8dup
ENST00000430710.7:c.2214+8dup	ENSP00000406288.3:n.2214+8dup
ENST00000555935.1:c.727+8dup
ENST00000555962.5:n.151-2671dup
ENST00000557364.5:c.3051+8dup	ENSP00000451601.1:n.3051+8dup
NM_001170629.1:c.3051+8dup	NP_001164100.1:n.3051+8dup
NM_020920.3:c.2214+8dup	NP_065971.2:n.2214+8dup
NM_001170629.2:c.3051+8dup MANE Select	NP_001164100.1:n.3051+8dup
NM_020920.4:c.2214+8dup	NP_065971.2:n.2214+8dup