Canonical Allele Identifier: CA7091839
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs368074043

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21429055A>T , CM000676.2:g.21429055A>T GRCh38
NC_000014.8:g.21897214A>T , CM000676.1:g.21897214A>T GRCh37
NC_000014.7:g.20967054A>T NCBI36
NG_021249.1:g.13244T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.287T>A ENSP00000406288.3:p.Leu96Gln
ENST00000553651.2:n.2930T>A
ENST00000555962.6:c.-111+2756T>A ENSP00000495174.1:n.-111+2756T>A
ENST00000557364.6:c.1124T>A ENSP00000451601.1:p.Leu375Gln
ENST00000642518.1:c.287T>A ENSP00000496722.1:p.Leu96Gln
ENST00000643048.1:n.1419T>A
ENST00000643469.1:c.1124T>A ENSP00000495070.1:p.Leu375Gln
ENST00000645140.1:c.1036T>A
ENST00000645929.1:c.287T>A ENSP00000494402.1:p.Leu96Gln
ENST00000646063.1:c.1211T>A ENSP00000496565.1:p.Leu404Gln
ENST00000646340.1:c.1130T>A ENSP00000496730.1:p.Leu377Gln
ENST00000646647.2:c.1124T>A MANE Select ENSP00000495240.1:p.Leu375Gln
ENST00000399982.6:c.1124T>A ENSP00000382863.2:p.Leu375Gln
ENST00000430710.7:c.287T>A ENSP00000406288.3:p.Leu96Gln
ENST00000555962.5:n.150+2756T>A
ENST00000557364.5:c.1124T>A ENSP00000451601.1:p.Leu375Gln
NM_001170629.1:c.1124T>A NP_001164100.1:p.Leu375Gln
NM_020920.3:c.287T>A NP_065971.2:p.Leu96Gln
NM_001170629.2:c.1124T>A MANE Select NP_001164100.1:p.Leu375Gln
NM_020920.4:c.287T>A NP_065971.2:p.Leu96Gln