Canonical Allele Identifier: CA388875152

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21385914G>A , CM000676.2:g.21385914G>A	GRCh38
NC_000014.8:g.21854073G>A , CM000676.1:g.21854073G>A	GRCh37
NC_000014.7:g.20923913G>A	NCBI36
NG_009932.1:g.3353C>T
NG_021249.1:g.56385C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7445C>T MANE Select	NP_001164100.1:p.Ser2482Leu
ENST00000646647.2:c.7445C>T MANE Select	ENSP00000495240.1:p.Ser2482Leu
NM_001170629.1:c.7445C>T	NP_001164100.1:p.Ser2482Leu
NM_020920.3:c.6608C>T	NP_065971.2:p.Ser2203Leu
NM_020920.4:c.6608C>T	NP_065971.2:p.Ser2203Leu
ENST00000399982.6:c.7445C>T	ENSP00000382863.2:p.Ser2482Leu
ENST00000430710.7:c.6608C>T	ENSP00000406288.3:p.Ser2203Leu
ENST00000430710.8:c.6608C>T	ENSP00000406288.3:p.Ser2203Leu
ENST00000553870.2:c.817C>T
ENST00000555935.2:c.5145C>T
ENST00000557364.5:c.7445C>T	ENSP00000451601.1:p.Ser2482Leu
ENST00000557364.6:c.7445C>T	ENSP00000451601.1:p.Ser2482Leu
ENST00000557727.1:n.431C>T
ENST00000643469.1:c.7445C>T	ENSP00000495070.1:p.Ser2482Leu
ENST00000645206.1:n.6601C>T
ENST00000645929.1:c.6608C>T	ENSP00000494402.1:p.Ser2203Leu
XR_001750627.1:n.621+1201G>A