Canonical Allele Identifier: CA388884626

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2633272
• ClinVar RCV Id: RCV004552441
• dbSNP Id: rs1555318226
• COSMIC: COSM1284110 ; COSM1284111
• MyVariant Identifiers: chr14:g.21897200G>A (hg19) ; chr14:g.21429041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429041G>A , CM000676.2:g.21429041G>A	GRCh38
NC_000014.8:g.21897200G>A , CM000676.1:g.21897200G>A	GRCh37
NC_000014.7:g.20967040G>A	NCBI36
NG_021249.1:g.13258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.301C>T	ENSP00000406288.3:p.Gln101Ter
ENST00000553651.2:n.2944C>T
ENST00000555962.6:c.-111+2770C>T	ENSP00000495174.1:n.-111+2770C>T
ENST00000557364.6:c.1138C>T	ENSP00000451601.1:p.Gln380Ter
ENST00000642518.1:c.301C>T	ENSP00000496722.1:p.Gln101Ter
ENST00000643048.1:n.1433C>T
ENST00000643469.1:c.1138C>T	ENSP00000495070.1:p.Gln380Ter
ENST00000645140.1:c.1050C>T
ENST00000645929.1:c.301C>T	ENSP00000494402.1:p.Gln101Ter
ENST00000646063.1:c.1225C>T	ENSP00000496565.1:p.Gln409Ter
ENST00000646340.1:c.1144C>T	ENSP00000496730.1:p.Gln382Ter
ENST00000646647.2:c.1138C>T MANE Select	ENSP00000495240.1:p.Gln380Ter
ENST00000399982.6:c.1138C>T	ENSP00000382863.2:p.Gln380Ter
ENST00000430710.7:c.301C>T	ENSP00000406288.3:p.Gln101Ter
ENST00000555962.5:n.150+2770C>T
ENST00000557364.5:c.1138C>T	ENSP00000451601.1:p.Gln380Ter
NM_001170629.1:c.1138C>T	NP_001164100.1:p.Gln380Ter
NM_020920.3:c.301C>T	NP_065971.2:p.Gln101Ter
NM_001170629.2:c.1138C>T MANE Select	NP_001164100.1:p.Gln380Ter
NM_020920.4:c.301C>T	NP_065971.2:p.Gln101Ter