Canonical Allele Identifier: CA388884080
Gene: CHD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21395009T>A , CM000676.2:g.21395009T>A GRCh38
NC_000014.8:g.21863168T>A , CM000676.1:g.21863168T>A GRCh37
NC_000014.7:g.20933008T>A NCBI36
NG_021249.1:g.47290A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.4456A>T ENSP00000406288.3:p.Met1486Leu
ENST00000555935.2:c.2993A>T
ENST00000555962.6:c.*678A>T ENSP00000495174.1:n.*678A>T
ENST00000557364.6:c.5293A>T ENSP00000451601.1:p.Met1765Leu
ENST00000643469.1:c.5293A>T ENSP00000495070.1:p.Met1765Leu
ENST00000645206.1:n.4449A>T
ENST00000645929.1:c.4456A>T ENSP00000494402.1:p.Met1486Leu
ENST00000646340.1:c.5299A>T ENSP00000496730.1:p.Met1767Leu
ENST00000646647.2:c.5293A>T MANE Select ENSP00000495240.1:p.Met1765Leu
ENST00000399982.6:c.5293A>T ENSP00000382863.2:p.Met1765Leu
ENST00000430710.7:c.4456A>T ENSP00000406288.3:p.Met1486Leu
ENST00000555301.1:n.6A>T
ENST00000557364.5:c.5293A>T ENSP00000451601.1:p.Met1765Leu
NM_001170629.1:c.5293A>T NP_001164100.1:p.Met1765Leu
NM_020920.3:c.4456A>T NP_065971.2:p.Met1486Leu
NM_001170629.2:c.5293A>T MANE Select NP_001164100.1:p.Met1765Leu
NM_020920.4:c.4456A>T NP_065971.2:p.Met1486Leu