Canonical Allele Identifier: CA388884584

Gene: CHD8

Linked Data

• dbSNP Id: rs1889449441
• gnomAD v4: 14-21429032-T-C
• MyVariant Identifiers: chr14:g.21897191T>C (hg19) ; chr14:g.21429032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429032T>C , CM000676.2:g.21429032T>C	GRCh38
NC_000014.8:g.21897191T>C , CM000676.1:g.21897191T>C	GRCh37
NC_000014.7:g.20967031T>C	NCBI36
NG_021249.1:g.13267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.310A>G	ENSP00000406288.3:p.Ile104Val
ENST00000553651.2:n.2953A>G
ENST00000555962.6:c.-111+2779A>G	ENSP00000495174.1:n.-111+2779A>G
ENST00000557364.6:c.1147A>G	ENSP00000451601.1:p.Ile383Val
ENST00000642518.1:c.310A>G	ENSP00000496722.1:p.Ile104Val
ENST00000643048.1:n.1442A>G
ENST00000643469.1:c.1147A>G	ENSP00000495070.1:p.Ile383Val
ENST00000645140.1:c.1059A>G
ENST00000645929.1:c.310A>G	ENSP00000494402.1:p.Ile104Val
ENST00000646063.1:c.1234A>G	ENSP00000496565.1:p.Ile412Val
ENST00000646340.1:c.1153A>G	ENSP00000496730.1:p.Ile385Val
ENST00000646647.2:c.1147A>G MANE Select	ENSP00000495240.1:p.Ile383Val
ENST00000399982.6:c.1147A>G	ENSP00000382863.2:p.Ile383Val
ENST00000430710.7:c.310A>G	ENSP00000406288.3:p.Ile104Val
ENST00000555962.5:n.150+2779A>G
ENST00000557364.5:c.1147A>G	ENSP00000451601.1:p.Ile383Val
NM_001170629.1:c.1147A>G	NP_001164100.1:p.Ile383Val
NM_020920.3:c.310A>G	NP_065971.2:p.Ile104Val
NM_001170629.2:c.1147A>G MANE Select	NP_001164100.1:p.Ile383Val
NM_020920.4:c.310A>G	NP_065971.2:p.Ile104Val