Canonical Allele Identifier: CA388879641

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21883945A>C (hg19) ; chr14:g.21415786A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415786A>C , CM000676.2:g.21415786A>C	GRCh38
NC_000014.8:g.21883945A>C , CM000676.1:g.21883945A>C	GRCh37
NC_000014.7:g.20953785A>C	NCBI36
NG_021249.1:g.26513T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1001T>G	ENSP00000406288.3:p.Ile334Ser
ENST00000555962.6:c.-110-12744T>G	ENSP00000495174.1:n.-110-12744T>G
ENST00000557364.6:c.1838T>G	ENSP00000451601.1:p.Ile613Ser
ENST00000642914.1:n.821T>G
ENST00000643469.1:c.1838T>G	ENSP00000495070.1:p.Ile613Ser
ENST00000645140.1:c.1750T>G
ENST00000645206.1:n.352T>G
ENST00000645929.1:c.1001T>G	ENSP00000494402.1:p.Ile334Ser
ENST00000646340.1:c.1844T>G	ENSP00000496730.1:p.Ile615Ser
ENST00000646647.2:c.1838T>G MANE Select	ENSP00000495240.1:p.Ile613Ser
ENST00000399982.6:c.1838T>G	ENSP00000382863.2:p.Ile613Ser
ENST00000430710.7:c.1001T>G	ENSP00000406288.3:p.Ile334Ser
ENST00000555962.5:n.151-12744T>G
ENST00000557364.5:c.1838T>G	ENSP00000451601.1:p.Ile613Ser
NM_001170629.1:c.1838T>G	NP_001164100.1:p.Ile613Ser
NM_020920.3:c.1001T>G	NP_065971.2:p.Ile334Ser
NM_001170629.2:c.1838T>G MANE Select	NP_001164100.1:p.Ile613Ser
NM_020920.4:c.1001T>G	NP_065971.2:p.Ile334Ser