Canonical Allele Identifier: CA484986706

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878019G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409860G>A , CM000676.2:g.21409860G>A	GRCh38
NC_000014.8:g.21878019G>A , CM000676.1:g.21878019G>A	GRCh37
NC_000014.7:g.20947859G>A	NCBI36
NG_021249.1:g.32439C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1518C>T	ENSP00000406288.3:p.Leu506=
ENST00000555935.2:c.31C>T
ENST00000555962.6:c.-110-6818C>T	ENSP00000495174.1:n.-110-6818C>T
ENST00000557364.6:c.2355C>T	ENSP00000451601.1:p.Leu785=
ENST00000643469.1:c.2355C>T	ENSP00000495070.1:p.Leu785=
ENST00000645140.1:c.2267C>T
ENST00000645206.1:n.869C>T
ENST00000645929.1:c.1518C>T	ENSP00000494402.1:p.Leu506=
ENST00000646340.1:c.2361C>T	ENSP00000496730.1:p.Leu787=
ENST00000646647.2:c.2355C>T MANE Select	ENSP00000495240.1:p.Leu785=
ENST00000399982.6:c.2355C>T	ENSP00000382863.2:p.Leu785=
ENST00000430710.7:c.1518C>T	ENSP00000406288.3:p.Leu506=
ENST00000554384.1:n.223C>T
ENST00000555935.1:c.31C>T
ENST00000555962.5:n.151-6818C>T
ENST00000557364.5:c.2355C>T	ENSP00000451601.1:p.Leu785=
NM_001170629.1:c.2355C>T	NP_001164100.1:p.Leu785=
NM_020920.3:c.1518C>T	NP_065971.2:p.Leu506=
NM_001170629.2:c.2355C>T MANE Select	NP_001164100.1:p.Leu785=
NM_020920.4:c.1518C>T	NP_065971.2:p.Leu506=