Canonical Allele Identifier: CA7091864
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs780630636

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21429236C>T , CM000676.2:g.21429236C>T GRCh38
NC_000014.8:g.21897395C>T , CM000676.1:g.21897395C>T GRCh37
NC_000014.7:g.20967235C>T NCBI36
NG_021249.1:g.13063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.106G>A ENSP00000406288.3:p.Val36Met
ENST00000553651.2:n.2749G>A
ENST00000555962.6:c.-111+2575G>A ENSP00000495174.1:n.-111+2575G>A
ENST00000557364.6:c.943G>A ENSP00000451601.1:p.Val315Met
ENST00000642518.1:c.106G>A ENSP00000496722.1:p.Val36Met
ENST00000643048.1:n.1238G>A
ENST00000643469.1:c.943G>A ENSP00000495070.1:p.Val315Met
ENST00000645140.1:c.855G>A
ENST00000645929.1:c.106G>A ENSP00000494402.1:p.Val36Met
ENST00000646063.1:c.1030G>A ENSP00000496565.1:p.Val344Met
ENST00000646340.1:c.949G>A ENSP00000496730.1:p.Val317Met
ENST00000646647.2:c.943G>A MANE Select ENSP00000495240.1:p.Val315Met
ENST00000399982.6:c.943G>A ENSP00000382863.2:p.Val315Met
ENST00000430710.7:c.106G>A ENSP00000406288.3:p.Val36Met
ENST00000553283.1:c.196G>A ENSP00000450860.1:p.Val66Met
ENST00000555962.5:n.150+2575G>A
ENST00000557364.5:c.943G>A ENSP00000451601.1:p.Val315Met
NM_001170629.1:c.943G>A NP_001164100.1:p.Val315Met
NM_020920.3:c.106G>A NP_065971.2:p.Val36Met
NM_001170629.2:c.943G>A MANE Select NP_001164100.1:p.Val315Met
NM_020920.4:c.106G>A NP_065971.2:p.Val36Met