Canonical Allele Identifier: CA388874193

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21875146T>G (hg19) ; chr14:g.21406987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406987T>G , CM000676.2:g.21406987T>G	GRCh38
NC_000014.8:g.21875146T>G , CM000676.1:g.21875146T>G	GRCh37
NC_000014.7:g.20944986T>G	NCBI36
NG_021249.1:g.35312A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1939A>C	ENSP00000406288.3:p.Thr647Pro
ENST00000555935.2:c.452A>C
ENST00000555962.6:c.-110-3945A>C	ENSP00000495174.1:n.-110-3945A>C
ENST00000557364.6:c.2776A>C	ENSP00000451601.1:p.Thr926Pro
ENST00000643469.1:c.2776A>C	ENSP00000495070.1:p.Thr926Pro
ENST00000645140.1:c.2688A>C
ENST00000645206.1:n.1290A>C
ENST00000645929.1:c.1939A>C	ENSP00000494402.1:p.Thr647Pro
ENST00000646340.1:c.2782A>C	ENSP00000496730.1:p.Thr928Pro
ENST00000646647.2:c.2776A>C MANE Select	ENSP00000495240.1:p.Thr926Pro
ENST00000399982.6:c.2776A>C	ENSP00000382863.2:p.Thr926Pro
ENST00000430710.7:c.1939A>C	ENSP00000406288.3:p.Thr647Pro
ENST00000555935.1:c.452A>C
ENST00000555962.5:n.151-3945A>C
ENST00000557364.5:c.2776A>C	ENSP00000451601.1:p.Thr926Pro
NM_001170629.1:c.2776A>C	NP_001164100.1:p.Thr926Pro
NM_020920.3:c.1939A>C	NP_065971.2:p.Thr647Pro
NM_001170629.2:c.2776A>C MANE Select	NP_001164100.1:p.Thr926Pro
NM_020920.4:c.1939A>C	NP_065971.2:p.Thr647Pro