Canonical Allele Identifier: CA484987353

Gene: CHD8

Linked Data

• COSMIC: COSM6445123 ; COSM6445124
• MyVariant Identifiers: chr14:g.21884052G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415893G>A , CM000676.2:g.21415893G>A	GRCh38
NC_000014.8:g.21884052G>A , CM000676.1:g.21884052G>A	GRCh37
NC_000014.7:g.20953892G>A	NCBI36
NG_021249.1:g.26406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.894C>T	ENSP00000406288.3:p.Asn298=
ENST00000555962.6:c.-110-12851C>T	ENSP00000495174.1:n.-110-12851C>T
ENST00000557364.6:c.1731C>T	ENSP00000451601.1:p.Asn577=
ENST00000642518.1:c.894C>T	ENSP00000496722.1:p.Asn298=
ENST00000642914.1:n.714C>T
ENST00000643469.1:c.1731C>T	ENSP00000495070.1:p.Asn577=
ENST00000645140.1:c.1643C>T
ENST00000645206.1:n.245C>T
ENST00000645929.1:c.894C>T	ENSP00000494402.1:p.Asn298=
ENST00000646340.1:c.1737C>T	ENSP00000496730.1:p.Asn579=
ENST00000646647.2:c.1731C>T MANE Select	ENSP00000495240.1:p.Asn577=
ENST00000399982.6:c.1731C>T	ENSP00000382863.2:p.Asn577=
ENST00000430710.7:c.894C>T	ENSP00000406288.3:p.Asn298=
ENST00000555962.5:n.151-12851C>T
ENST00000557364.5:c.1731C>T	ENSP00000451601.1:p.Asn577=
NM_001170629.1:c.1731C>T	NP_001164100.1:p.Asn577=
NM_020920.3:c.894C>T	NP_065971.2:p.Asn298=
NM_001170629.2:c.1731C>T MANE Select	NP_001164100.1:p.Asn577=
NM_020920.4:c.894C>T	NP_065971.2:p.Asn298=