Canonical Allele Identifier: CA388893587

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21868632T>A (hg19) ; chr14:g.21400473T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400473T>A , CM000676.2:g.21400473T>A	GRCh38
NC_000014.8:g.21868632T>A , CM000676.1:g.21868632T>A	GRCh37
NC_000014.7:g.20938472T>A	NCBI36
NG_021249.1:g.41826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3673A>T	ENSP00000406288.3:p.Ile1225Phe
ENST00000555935.2:c.2186A>T
ENST00000555962.6:c.265-166A>T	ENSP00000495174.1:n.265-166A>T
ENST00000557364.6:c.4510A>T	ENSP00000451601.1:p.Ile1504Phe
ENST00000643469.1:c.4510A>T	ENSP00000495070.1:p.Ile1504Phe
ENST00000645206.1:n.3024A>T
ENST00000645929.1:c.3673A>T	ENSP00000494402.1:p.Ile1225Phe
ENST00000646340.1:c.4516A>T	ENSP00000496730.1:p.Ile1506Phe
ENST00000646558.1:n.1326A>T
ENST00000646647.2:c.4510A>T MANE Select	ENSP00000495240.1:p.Ile1504Phe
ENST00000399982.6:c.4510A>T	ENSP00000382863.2:p.Ile1504Phe
ENST00000430710.7:c.3673A>T	ENSP00000406288.3:p.Ile1225Phe
ENST00000555935.1:c.2186A>T
ENST00000555962.5:n.525-166A>T
ENST00000557364.5:c.4510A>T	ENSP00000451601.1:p.Ile1504Phe
NM_001170629.1:c.4510A>T	NP_001164100.1:p.Ile1504Phe
NM_020920.3:c.3673A>T	NP_065971.2:p.Ile1225Phe
NM_001170629.2:c.4510A>T MANE Select	NP_001164100.1:p.Ile1504Phe
NM_020920.4:c.3673A>T	NP_065971.2:p.Ile1225Phe