Canonical Allele Identifier: CA388880169

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21861739T>A (hg19) ; chr14:g.21393580T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393580T>A , CM000676.2:g.21393580T>A	GRCh38
NC_000014.8:g.21861739T>A , CM000676.1:g.21861739T>A	GRCh37
NC_000014.7:g.20931579T>A	NCBI36
NG_021249.1:g.48719A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5378A>T	ENSP00000406288.3:p.Glu1793Val
ENST00000555935.2:c.3915A>T
ENST00000557364.6:c.6215A>T	ENSP00000451601.1:p.Glu2072Val
ENST00000643469.1:c.6215A>T	ENSP00000495070.1:p.Glu2072Val
ENST00000645206.1:n.5371A>T
ENST00000645929.1:c.5378A>T	ENSP00000494402.1:p.Glu1793Val
ENST00000646647.2:c.6215A>T MANE Select	ENSP00000495240.1:p.Glu2072Val
ENST00000399982.6:c.6215A>T	ENSP00000382863.2:p.Glu2072Val
ENST00000430710.7:c.5378A>T	ENSP00000406288.3:p.Glu1793Val
ENST00000557364.5:c.6215A>T	ENSP00000451601.1:p.Glu2072Val
NM_001170629.1:c.6215A>T	NP_001164100.1:p.Glu2072Val
NM_020920.3:c.5378A>T	NP_065971.2:p.Glu1793Val
NM_001170629.2:c.6215A>T MANE Select	NP_001164100.1:p.Glu2072Val
NM_020920.4:c.5378A>T	NP_065971.2:p.Glu1793Val