Canonical Allele Identifier: CA388903451

Gene: CHD8

Linked Data

• COSMIC: COSM469787 ; COSM4856952
• MyVariant Identifiers: chr14:g.21873953A>G (hg19) ; chr14:g.21405794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405794A>G , CM000676.2:g.21405794A>G	GRCh38
NC_000014.8:g.21873953A>G , CM000676.1:g.21873953A>G	GRCh37
NC_000014.7:g.20943793A>G	NCBI36
NG_021249.1:g.36505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2141T>C	ENSP00000406288.3:p.Phe714Ser
ENST00000555935.2:c.654T>C
ENST00000555962.6:c.-110-2752T>C	ENSP00000495174.1:n.-110-2752T>C
ENST00000557364.6:c.2978T>C	ENSP00000451601.1:p.Phe993Ser
ENST00000643469.1:c.2978T>C	ENSP00000495070.1:p.Phe993Ser
ENST00000645140.1:c.2890T>C
ENST00000645206.1:n.1492T>C
ENST00000645929.1:c.2141T>C	ENSP00000494402.1:p.Phe714Ser
ENST00000646340.1:c.2984T>C	ENSP00000496730.1:p.Phe995Ser
ENST00000646647.2:c.2978T>C MANE Select	ENSP00000495240.1:p.Phe993Ser
ENST00000399982.6:c.2978T>C	ENSP00000382863.2:p.Phe993Ser
ENST00000430710.7:c.2141T>C	ENSP00000406288.3:p.Phe714Ser
ENST00000555935.1:c.654T>C
ENST00000555962.5:n.151-2752T>C
ENST00000557364.5:c.2978T>C	ENSP00000451601.1:p.Phe993Ser
NM_001170629.1:c.2978T>C	NP_001164100.1:p.Phe993Ser
NM_020920.3:c.2141T>C	NP_065971.2:p.Phe714Ser
NM_001170629.2:c.2978T>C MANE Select	NP_001164100.1:p.Phe993Ser
NM_020920.4:c.2141T>C	NP_065971.2:p.Phe714Ser