Canonical Allele Identifier: CA612363652

Gene: CHD8

Linked Data

• dbSNP Id: rs1453240324
• gnomAD v2: 14-21883705-A-AAAT
• gnomAD v4: 14-21415546-A-AAAT
• MyVariant Identifiers: chr14:g.21883705_21883706insAAT (hg19) ; chr14:g.21415546_21415547insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415547_21415548insATA , CM000676.2:g.21415547_21415548insATA	GRCh38
NC_000014.8:g.21883706_21883707insATA , CM000676.1:g.21883706_21883707insATA	GRCh37
NC_000014.7:g.20953546_20953547insATA	NCBI36
NG_021249.1:g.26752_26753insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+27_1131+28insATT	ENSP00000406288.3:n.1131+27_1131+28insATT
ENST00000555962.6:c.-110-12505_-110-12504insATT	ENSP00000495174.1:n.-110-12505_-110-12504insATT
ENST00000557364.6:c.1968+27_1968+28insATT	ENSP00000451601.1:n.1968+27_1968+28insATT
ENST00000642914.1:n.978_979insATT
ENST00000643469.1:c.1968+27_1968+28insATT	ENSP00000495070.1:n.1968+27_1968+28insATT
ENST00000645140.1:c.1880+27_1880+28insATT
ENST00000645206.1:n.482+27_482+28insATT
ENST00000645929.1:c.1131+27_1131+28insATT	ENSP00000494402.1:n.1131+27_1131+28insATT
ENST00000646340.1:c.1974+27_1974+28insATT	ENSP00000496730.1:n.1974+27_1974+28insATT
ENST00000646647.2:c.1968+27_1968+28insATT MANE Select	ENSP00000495240.1:n.1968+27_1968+28insATT
ENST00000399982.6:c.1968+27_1968+28insATT	ENSP00000382863.2:n.1968+27_1968+28insATT
ENST00000430710.7:c.1131+27_1131+28insATT	ENSP00000406288.3:n.1131+27_1131+28insATT
ENST00000555962.5:n.151-12505_151-12504insATT
ENST00000557364.5:c.1968+27_1968+28insATT	ENSP00000451601.1:n.1968+27_1968+28insATT
NM_001170629.1:c.1968+27_1968+28insATT	NP_001164100.1:n.1968+27_1968+28insATT
NM_020920.3:c.1131+27_1131+28insATT	NP_065971.2:n.1131+27_1131+28insATT
NM_001170629.2:c.1968+27_1968+28insATT MANE Select	NP_001164100.1:n.1968+27_1968+28insATT
NM_020920.4:c.1131+27_1131+28insATT	NP_065971.2:n.1131+27_1131+28insATT