Canonical Allele Identifier: CA388903494

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21873961C>G (hg19) ; chr14:g.21405802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405802C>G , CM000676.2:g.21405802C>G	GRCh38
NC_000014.8:g.21873961C>G , CM000676.1:g.21873961C>G	GRCh37
NC_000014.7:g.20943801C>G	NCBI36
NG_021249.1:g.36497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2133G>C	ENSP00000406288.3:p.Leu711Phe
ENST00000555935.2:c.646G>C
ENST00000555962.6:c.-110-2760G>C	ENSP00000495174.1:n.-110-2760G>C
ENST00000557364.6:c.2970G>C	ENSP00000451601.1:p.Leu990Phe
ENST00000643469.1:c.2970G>C	ENSP00000495070.1:p.Leu990Phe
ENST00000645140.1:c.2882G>C
ENST00000645206.1:n.1484G>C
ENST00000645929.1:c.2133G>C	ENSP00000494402.1:p.Leu711Phe
ENST00000646340.1:c.2976G>C	ENSP00000496730.1:p.Leu992Phe
ENST00000646647.2:c.2970G>C MANE Select	ENSP00000495240.1:p.Leu990Phe
ENST00000399982.6:c.2970G>C	ENSP00000382863.2:p.Leu990Phe
ENST00000430710.7:c.2133G>C	ENSP00000406288.3:p.Leu711Phe
ENST00000555935.1:c.646G>C
ENST00000555962.5:n.151-2760G>C
ENST00000557364.5:c.2970G>C	ENSP00000451601.1:p.Leu990Phe
NM_001170629.1:c.2970G>C	NP_001164100.1:p.Leu990Phe
NM_020920.3:c.2133G>C	NP_065971.2:p.Leu711Phe
NM_001170629.2:c.2970G>C MANE Select	NP_001164100.1:p.Leu990Phe
NM_020920.4:c.2133G>C	NP_065971.2:p.Leu711Phe