Canonical Allele Identifier: CA388878296

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21392560T>A , CM000676.2:g.21392560T>A	GRCh38
NC_000014.8:g.21860719T>A , CM000676.1:g.21860719T>A	GRCh37
NC_000014.7:g.20930559T>A	NCBI36
NG_021249.1:g.49739A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.6718A>T MANE Select	NP_001164100.1:p.Thr2240Ser
ENST00000646647.2:c.6718A>T MANE Select	ENSP00000495240.1:p.Thr2240Ser
NM_001170629.1:c.6718A>T	NP_001164100.1:p.Thr2240Ser
NM_020920.3:c.5881A>T	NP_065971.2:p.Thr1961Ser
NM_020920.4:c.5881A>T	NP_065971.2:p.Thr1961Ser
ENST00000399982.6:c.6718A>T	ENSP00000382863.2:p.Thr2240Ser
ENST00000430710.7:c.5881A>T	ENSP00000406288.3:p.Thr1961Ser
ENST00000430710.8:c.5881A>T	ENSP00000406288.3:p.Thr1961Ser
ENST00000553870.1:c.229A>T	ENSP00000451071.1:p.Thr77Ser
ENST00000553870.2:c.270A>T
ENST00000555935.2:c.4418A>T
ENST00000557364.5:c.6718A>T	ENSP00000451601.1:p.Thr2240Ser
ENST00000557364.6:c.6718A>T	ENSP00000451601.1:p.Thr2240Ser
ENST00000643469.1:c.6718A>T	ENSP00000495070.1:p.Thr2240Ser
ENST00000645206.1:n.5874A>T
ENST00000645929.1:c.5881A>T	ENSP00000494402.1:p.Thr1961Ser