Canonical Allele Identifier: CA388885551

Gene: CHD8

Linked Data

• COSMIC: COSM6229715 ; COSM6229716
• MyVariant Identifiers: chr14:g.21897430C>A (hg19) ; chr14:g.21429271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429271C>A , CM000676.2:g.21429271C>A	GRCh38
NC_000014.8:g.21897430C>A , CM000676.1:g.21897430C>A	GRCh37
NC_000014.7:g.20967270C>A	NCBI36
NG_021249.1:g.13028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.71G>T	ENSP00000406288.3:p.Arg24Leu
ENST00000553651.2:n.2714G>T
ENST00000555962.6:c.-111+2540G>T	ENSP00000495174.1:n.-111+2540G>T
ENST00000557364.6:c.908G>T	ENSP00000451601.1:p.Arg303Leu
ENST00000642518.1:c.71G>T	ENSP00000496722.1:p.Arg24Leu
ENST00000643048.1:n.1203G>T
ENST00000643469.1:c.908G>T	ENSP00000495070.1:p.Arg303Leu
ENST00000645140.1:c.820G>T
ENST00000645929.1:c.71G>T	ENSP00000494402.1:p.Arg24Leu
ENST00000646063.1:c.995G>T	ENSP00000496565.1:p.Arg332Leu
ENST00000646340.1:c.914G>T	ENSP00000496730.1:p.Arg305Leu
ENST00000646647.2:c.908G>T MANE Select	ENSP00000495240.1:p.Arg303Leu
ENST00000399982.6:c.908G>T	ENSP00000382863.2:p.Arg303Leu
ENST00000430710.7:c.71G>T	ENSP00000406288.3:p.Arg24Leu
ENST00000553283.1:c.161G>T	ENSP00000450860.1:p.Arg54Leu
ENST00000555962.5:n.150+2540G>T
ENST00000557364.5:c.908G>T	ENSP00000451601.1:p.Arg303Leu
NM_001170629.1:c.908G>T	NP_001164100.1:p.Arg303Leu
NM_020920.3:c.71G>T	NP_065971.2:p.Arg24Leu
NM_001170629.2:c.908G>T MANE Select	NP_001164100.1:p.Arg303Leu
NM_020920.4:c.71G>T	NP_065971.2:p.Arg24Leu