Canonical Allele Identifier: CA388874969

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21385863G>T , CM000676.2:g.21385863G>T	GRCh38
NC_000014.8:g.21854022G>T , CM000676.1:g.21854022G>T	GRCh37
NC_000014.7:g.20923862G>T	NCBI36
NG_009932.1:g.3404C>A
NG_021249.1:g.56436C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7496C>A MANE Select	NP_001164100.1:p.Pro2499His
ENST00000646647.2:c.7496C>A MANE Select	ENSP00000495240.1:p.Pro2499His
NM_001170629.1:c.7496C>A	NP_001164100.1:p.Pro2499His
NM_020920.3:c.6659C>A	NP_065971.2:p.Pro2220His
NM_020920.4:c.6659C>A	NP_065971.2:p.Pro2220His
ENST00000399982.6:c.7496C>A	ENSP00000382863.2:p.Pro2499His
ENST00000430710.7:c.6659C>A	ENSP00000406288.3:p.Pro2220His
ENST00000430710.8:c.6659C>A	ENSP00000406288.3:p.Pro2220His
ENST00000553870.2:c.868C>A
ENST00000555935.2:c.5196C>A
ENST00000557364.5:c.7496C>A	ENSP00000451601.1:p.Pro2499His
ENST00000557364.6:c.7496C>A	ENSP00000451601.1:p.Pro2499His
ENST00000557727.1:n.482C>A
ENST00000643469.1:c.7496C>A	ENSP00000495070.1:p.Pro2499His
ENST00000645206.1:n.6652C>A
ENST00000645929.1:c.6659C>A	ENSP00000494402.1:p.Pro2220His
XR_001750627.1:n.621+1150G>T