Canonical Allele Identifier: CA2122506285

Gene: CHD8

Linked Data

• dbSNP Id: rs1889466340
• gnomAD v4: 14-21429387-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429387T>C , CM000676.2:g.21429387T>C	GRCh38
NC_000014.8:g.21897546T>C , CM000676.1:g.21897546T>C	GRCh37
NC_000014.7:g.20967386T>C	NCBI36
NG_021249.1:g.12912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.7-52A>G	ENSP00000406288.3:n.7-52A>G
ENST00000553651.2:n.2598A>G
ENST00000555962.6:c.-111+2424A>G	ENSP00000495174.1:n.-111+2424A>G
ENST00000557364.6:c.844-52A>G	ENSP00000451601.1:n.844-52A>G
ENST00000642518.1:c.7-52A>G	ENSP00000496722.1:n.7-52A>G
ENST00000643048.1:n.1139-52A>G
ENST00000643469.1:c.844-52A>G	ENSP00000495070.1:n.844-52A>G
ENST00000645140.1:c.756-52A>G
ENST00000645929.1:c.7-52A>G	ENSP00000494402.1:n.7-52A>G
ENST00000646063.1:c.931-52A>G	ENSP00000496565.1:n.931-52A>G
ENST00000646340.1:c.850-52A>G	ENSP00000496730.1:n.850-52A>G
ENST00000646647.2:c.844-52A>G MANE Select	ENSP00000495240.1:n.844-52A>G
ENST00000399982.6:c.844-52A>G	ENSP00000382863.2:n.844-52A>G
ENST00000430710.7:c.7-52A>G	ENSP00000406288.3:n.7-52A>G
ENST00000553283.1:c.97-52A>G	ENSP00000450860.1:n.97-52A>G
ENST00000555962.5:n.150+2424A>G
ENST00000557364.5:c.844-52A>G	ENSP00000451601.1:n.844-52A>G
NM_001170629.1:c.844-52A>G	NP_001164100.1:n.844-52A>G
NM_020920.3:c.7-52A>G	NP_065971.2:n.7-52A>G
NM_001170629.2:c.844-52A>G MANE Select	NP_001164100.1:n.844-52A>G
NM_020920.4:c.7-52A>G	NP_065971.2:n.7-52A>G