Canonical Allele Identifier: CA388899217

Gene: CHD8

Linked Data

• ClinVar Variation Id: 437423
• ClinVar RCV Id: RCV000501180 ; RCV001382440 ; RCV003389052
• dbSNP Id: rs1555314788
• MyVariant Identifiers: chr14:g.21870653G>A (hg19) ; chr14:g.21402494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21402494G>A , CM000676.2:g.21402494G>A	GRCh38
NC_000014.8:g.21870653G>A , CM000676.1:g.21870653G>A	GRCh37
NC_000014.7:g.20940493G>A	NCBI36
NG_021249.1:g.39805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2887C>T	ENSP00000406288.3:p.Arg963Ter
ENST00000555935.2:c.1400C>T
ENST00000555962.6:c.-75C>T	ENSP00000495174.1:n.-75C>T
ENST00000557364.6:c.3724C>T	ENSP00000451601.1:p.Arg1242Ter
ENST00000643469.1:c.3724C>T	ENSP00000495070.1:p.Arg1242Ter
ENST00000645206.1:n.2238C>T
ENST00000645929.1:c.2887C>T	ENSP00000494402.1:p.Arg963Ter
ENST00000646340.1:c.3730C>T	ENSP00000496730.1:p.Arg1244Ter
ENST00000646647.2:c.3724C>T MANE Select	ENSP00000495240.1:p.Arg1242Ter
ENST00000399982.6:c.3724C>T	ENSP00000382863.2:p.Arg1242Ter
ENST00000430710.7:c.2887C>T	ENSP00000406288.3:p.Arg963Ter
ENST00000555935.1:c.1400C>T
ENST00000555962.5:n.186C>T
ENST00000557364.5:c.3724C>T	ENSP00000451601.1:p.Arg1242Ter
NM_001170629.1:c.3724C>T	NP_001164100.1:p.Arg1242Ter
NM_020920.3:c.2887C>T	NP_065971.2:p.Arg963Ter
NM_001170629.2:c.3724C>T MANE Select	NP_001164100.1:p.Arg1242Ter
NM_020920.4:c.2887C>T	NP_065971.2:p.Arg963Ter