Canonical Allele Identifier: CA484991641

Gene: CHD8

Linked Data

• dbSNP Id: rs1889455508
• gnomAD v3: 14-21429171-C-T
• gnomAD v4: 14-21429171-C-T
• MyVariant Identifiers: chr14:g.21897330C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429171C>T , CM000676.2:g.21429171C>T	GRCh38
NC_000014.8:g.21897330C>T , CM000676.1:g.21897330C>T	GRCh37
NC_000014.7:g.20967170C>T	NCBI36
NG_021249.1:g.13128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.171G>A	ENSP00000406288.3:p.Lys57=
ENST00000553651.2:n.2814G>A
ENST00000555962.6:c.-111+2640G>A	ENSP00000495174.1:n.-111+2640G>A
ENST00000557364.6:c.1008G>A	ENSP00000451601.1:p.Lys336=
ENST00000642518.1:c.171G>A	ENSP00000496722.1:p.Lys57=
ENST00000643048.1:n.1303G>A
ENST00000643469.1:c.1008G>A	ENSP00000495070.1:p.Lys336=
ENST00000645140.1:c.920G>A
ENST00000645929.1:c.171G>A	ENSP00000494402.1:p.Lys57=
ENST00000646063.1:c.1095G>A	ENSP00000496565.1:p.Lys365=
ENST00000646340.1:c.1014G>A	ENSP00000496730.1:p.Lys338=
ENST00000646647.2:c.1008G>A MANE Select	ENSP00000495240.1:p.Lys336=
ENST00000399982.6:c.1008G>A	ENSP00000382863.2:p.Lys336=
ENST00000430710.7:c.171G>A	ENSP00000406288.3:p.Lys57=
ENST00000553283.1:c.261G>A	ENSP00000450860.1:p.Lys87=
ENST00000555962.5:n.150+2640G>A
ENST00000557364.5:c.1008G>A	ENSP00000451601.1:p.Lys336=
NM_001170629.1:c.1008G>A	NP_001164100.1:p.Lys336=
NM_020920.3:c.171G>A	NP_065971.2:p.Lys57=
NM_001170629.2:c.1008G>A MANE Select	NP_001164100.1:p.Lys336=
NM_020920.4:c.171G>A	NP_065971.2:p.Lys57=