Canonical Allele Identifier: CA388880275

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1708777
• ClinVar RCV Id: RCV002288061
• MyVariant Identifiers: chr14:g.21861785T>G (hg19) ; chr14:g.21393626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393626T>G , CM000676.2:g.21393626T>G	GRCh38
NC_000014.8:g.21861785T>G , CM000676.1:g.21861785T>G	GRCh37
NC_000014.7:g.20931625T>G	NCBI36
NG_021249.1:g.48673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5332A>C	ENSP00000406288.3:p.Ser1778Arg
ENST00000555935.2:c.3869A>C
ENST00000557364.6:c.6169A>C	ENSP00000451601.1:p.Ser2057Arg
ENST00000643469.1:c.6169A>C	ENSP00000495070.1:p.Ser2057Arg
ENST00000645206.1:n.5325A>C
ENST00000645929.1:c.5332A>C	ENSP00000494402.1:p.Ser1778Arg
ENST00000646647.2:c.6169A>C MANE Select	ENSP00000495240.1:p.Ser2057Arg
ENST00000399982.6:c.6169A>C	ENSP00000382863.2:p.Ser2057Arg
ENST00000430710.7:c.5332A>C	ENSP00000406288.3:p.Ser1778Arg
ENST00000557364.5:c.6169A>C	ENSP00000451601.1:p.Ser2057Arg
NM_001170629.1:c.6169A>C	NP_001164100.1:p.Ser2057Arg
NM_020920.3:c.5332A>C	NP_065971.2:p.Ser1778Arg
NM_001170629.2:c.6169A>C MANE Select	NP_001164100.1:p.Ser2057Arg
NM_020920.4:c.5332A>C	NP_065971.2:p.Ser1778Arg