Canonical Allele Identifier: CA388894246

Gene: CHD8

Linked Data

• dbSNP Id: rs1555314397
• MyVariant Identifiers: chr14:g.21868731T>A (hg19) ; chr14:g.21400572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400572T>A , CM000676.2:g.21400572T>A	GRCh38
NC_000014.8:g.21868731T>A , CM000676.1:g.21868731T>A	GRCh37
NC_000014.7:g.20938571T>A	NCBI36
NG_021249.1:g.41727A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3574A>T	ENSP00000406288.3:p.Lys1192Ter
ENST00000555935.2:c.2087A>T
ENST00000555962.6:c.265-265A>T	ENSP00000495174.1:n.265-265A>T
ENST00000557364.6:c.4411A>T	ENSP00000451601.1:p.Lys1471Ter
ENST00000643469.1:c.4411A>T	ENSP00000495070.1:p.Lys1471Ter
ENST00000645206.1:n.2925A>T
ENST00000645929.1:c.3574A>T	ENSP00000494402.1:p.Lys1192Ter
ENST00000646340.1:c.4417A>T	ENSP00000496730.1:p.Lys1473Ter
ENST00000646558.1:n.1227A>T
ENST00000646647.2:c.4411A>T MANE Select	ENSP00000495240.1:p.Lys1471Ter
ENST00000399982.6:c.4411A>T	ENSP00000382863.2:p.Lys1471Ter
ENST00000430710.7:c.3574A>T	ENSP00000406288.3:p.Lys1192Ter
ENST00000555935.1:c.2087A>T
ENST00000555962.5:n.525-265A>T
ENST00000557364.5:c.4411A>T	ENSP00000451601.1:p.Lys1471Ter
NM_001170629.1:c.4411A>T	NP_001164100.1:p.Lys1471Ter
NM_020920.3:c.3574A>T	NP_065971.2:p.Lys1192Ter
NM_001170629.2:c.4411A>T MANE Select	NP_001164100.1:p.Lys1471Ter
NM_020920.4:c.3574A>T	NP_065971.2:p.Lys1192Ter