Canonical Allele Identifier: CA484992481

Gene: CHD8

Linked Data

• dbSNP Id: rs1482541787
• gnomAD v2: 14-21899446-A-G
• MyVariant Identifiers: chr14:g.21899446A>G (hg19) ; chr14:g.21431287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21431287A>G , CM000676.2:g.21431287A>G	GRCh38
NC_000014.8:g.21899446A>G , CM000676.1:g.21899446A>G	GRCh37
NC_000014.7:g.20969286A>G	NCBI36
NG_021249.1:g.11012T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.6+524T>C	ENSP00000406288.3:n.6+524T>C
ENST00000553651.2:n.698T>C
ENST00000555962.6:c.-111+524T>C	ENSP00000495174.1:n.-111+524T>C
ENST00000557364.6:c.357T>C	ENSP00000451601.1:p.Leu119=
ENST00000642518.1:c.6+524T>C	ENSP00000496722.1:n.6+524T>C
ENST00000643048.1:n.652T>C
ENST00000643469.1:c.357T>C	ENSP00000495070.1:p.Leu119=
ENST00000645140.1:c.269T>C
ENST00000645929.1:c.6+524T>C	ENSP00000494402.1:n.6+524T>C
ENST00000646063.1:c.444T>C	ENSP00000496565.1:p.Leu148=
ENST00000646340.1:c.363T>C	ENSP00000496730.1:p.Leu121=
ENST00000646647.2:c.357T>C MANE Select	ENSP00000495240.1:p.Leu119=
ENST00000399982.6:c.357T>C	ENSP00000382863.2:p.Leu119=
ENST00000430710.7:c.6+524T>C	ENSP00000406288.3:n.6+524T>C
ENST00000553283.1:c.97-1952T>C	ENSP00000450860.1:n.97-1952T>C
ENST00000553622.5:c.282T>C	ENSP00000450957.1:p.Leu94=
ENST00000555962.5:n.150+524T>C
ENST00000557364.5:c.357T>C	ENSP00000451601.1:p.Leu119=
NM_001170629.1:c.357T>C	NP_001164100.1:p.Leu119=
NM_020920.3:c.6+524T>C	NP_065971.2:n.6+524T>C
NM_001170629.2:c.357T>C MANE Select	NP_001164100.1:p.Leu119=
NM_020920.4:c.6+524T>C	NP_065971.2:n.6+524T>C