Canonical Allele Identifier: CA388894012

Gene: CHD8

Linked Data

• dbSNP Id: rs1555314384
• MyVariant Identifiers: chr14:g.21868693A>T (hg19) ; chr14:g.21400534A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400534A>T , CM000676.2:g.21400534A>T	GRCh38
NC_000014.8:g.21868693A>T , CM000676.1:g.21868693A>T	GRCh37
NC_000014.7:g.20938533A>T	NCBI36
NG_021249.1:g.41765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3612T>A	ENSP00000406288.3:p.Cys1204Ter
ENST00000555935.2:c.2125T>A
ENST00000555962.6:c.265-227T>A	ENSP00000495174.1:n.265-227T>A
ENST00000557364.6:c.4449T>A	ENSP00000451601.1:p.Cys1483Ter
ENST00000643469.1:c.4449T>A	ENSP00000495070.1:p.Cys1483Ter
ENST00000645206.1:n.2963T>A
ENST00000645929.1:c.3612T>A	ENSP00000494402.1:p.Cys1204Ter
ENST00000646340.1:c.4455T>A	ENSP00000496730.1:p.Cys1485Ter
ENST00000646558.1:n.1265T>A
ENST00000646647.2:c.4449T>A MANE Select	ENSP00000495240.1:p.Cys1483Ter
ENST00000399982.6:c.4449T>A	ENSP00000382863.2:p.Cys1483Ter
ENST00000430710.7:c.3612T>A	ENSP00000406288.3:p.Cys1204Ter
ENST00000555935.1:c.2125T>A
ENST00000555962.5:n.525-227T>A
ENST00000557364.5:c.4449T>A	ENSP00000451601.1:p.Cys1483Ter
NM_001170629.1:c.4449T>A	NP_001164100.1:p.Cys1483Ter
NM_020920.3:c.3612T>A	NP_065971.2:p.Cys1204Ter
NM_001170629.2:c.4449T>A MANE Select	NP_001164100.1:p.Cys1483Ter
NM_020920.4:c.3612T>A	NP_065971.2:p.Cys1204Ter