Canonical Allele Identifier: CA704110739

Gene: CHD8

Linked Data

• dbSNP Id: rs1395413641
• MyVariant Identifiers: chr14:g.21878255G>C (hg19) ; chr14:g.21410096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21410096G>C , CM000676.2:g.21410096G>C	GRCh38
NC_000014.8:g.21878255G>C , CM000676.1:g.21878255G>C	GRCh37
NC_000014.7:g.20948095G>C	NCBI36
NG_021249.1:g.32203C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1390-108C>G	ENSP00000406288.3:n.1390-108C>G
ENST00000555962.6:c.-110-7054C>G	ENSP00000495174.1:n.-110-7054C>G
ENST00000557364.6:c.2227-108C>G	ENSP00000451601.1:n.2227-108C>G
ENST00000643469.1:c.2227-108C>G	ENSP00000495070.1:n.2227-108C>G
ENST00000645140.1:c.2139-108C>G
ENST00000645206.1:n.741-108C>G
ENST00000645929.1:c.1390-108C>G	ENSP00000494402.1:n.1390-108C>G
ENST00000646340.1:c.2233-108C>G	ENSP00000496730.1:n.2233-108C>G
ENST00000646647.2:c.2227-108C>G MANE Select	ENSP00000495240.1:n.2227-108C>G
ENST00000399982.6:c.2227-108C>G	ENSP00000382863.2:n.2227-108C>G
ENST00000430710.7:c.1390-108C>G	ENSP00000406288.3:n.1390-108C>G
ENST00000554384.1:n.95-108C>G
ENST00000555962.5:n.151-7054C>G
ENST00000557364.5:c.2227-108C>G	ENSP00000451601.1:n.2227-108C>G
NM_001170629.1:c.2227-108C>G	NP_001164100.1:n.2227-108C>G
NM_020920.3:c.1390-108C>G	NP_065971.2:n.1390-108C>G
NM_001170629.2:c.2227-108C>G MANE Select	NP_001164100.1:n.2227-108C>G
NM_020920.4:c.1390-108C>G	NP_065971.2:n.1390-108C>G