Canonical Allele Identifier: CA388903127

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21873890G>T (hg19) ; chr14:g.21405731G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405731G>T , CM000676.2:g.21405731G>T	GRCh38
NC_000014.8:g.21873890G>T , CM000676.1:g.21873890G>T	GRCh37
NC_000014.7:g.20943730G>T	NCBI36
NG_021249.1:g.36568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2204C>A	ENSP00000406288.3:p.Thr735Lys
ENST00000555935.2:c.717C>A
ENST00000555962.6:c.-110-2689C>A	ENSP00000495174.1:n.-110-2689C>A
ENST00000557364.6:c.3041C>A	ENSP00000451601.1:p.Thr1014Lys
ENST00000643469.1:c.3041C>A	ENSP00000495070.1:p.Thr1014Lys
ENST00000645140.1:c.2953C>A
ENST00000645206.1:n.1555C>A
ENST00000645929.1:c.2204C>A	ENSP00000494402.1:p.Thr735Lys
ENST00000646340.1:c.3047C>A	ENSP00000496730.1:p.Thr1016Lys
ENST00000646647.2:c.3041C>A MANE Select	ENSP00000495240.1:p.Thr1014Lys
ENST00000399982.6:c.3041C>A	ENSP00000382863.2:p.Thr1014Lys
ENST00000430710.7:c.2204C>A	ENSP00000406288.3:p.Thr735Lys
ENST00000555935.1:c.717C>A
ENST00000555962.5:n.151-2689C>A
ENST00000557364.5:c.3041C>A	ENSP00000451601.1:p.Thr1014Lys
NM_001170629.1:c.3041C>A	NP_001164100.1:p.Thr1014Lys
NM_020920.3:c.2204C>A	NP_065971.2:p.Thr735Lys
NM_001170629.2:c.3041C>A MANE Select	NP_001164100.1:p.Thr1014Lys
NM_020920.4:c.2204C>A	NP_065971.2:p.Thr735Lys