Canonical Allele Identifier: CA485001208

Gene: CHD8

Linked Data

• dbSNP Id: rs1175898061
• gnomAD v2: 14-21873979-T-C
• gnomAD v4: 14-21405820-T-C
• MyVariant Identifiers: chr14:g.21873979T>C (hg19) ; chr14:g.21405820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405820T>C , CM000676.2:g.21405820T>C	GRCh38
NC_000014.8:g.21873979T>C , CM000676.1:g.21873979T>C	GRCh37
NC_000014.7:g.20943819T>C	NCBI36
NG_021249.1:g.36479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2115A>G	ENSP00000406288.3:p.Val705=
ENST00000555935.2:c.628A>G
ENST00000555962.6:c.-110-2778A>G	ENSP00000495174.1:n.-110-2778A>G
ENST00000557364.6:c.2952A>G	ENSP00000451601.1:p.Val984=
ENST00000643469.1:c.2952A>G	ENSP00000495070.1:p.Val984=
ENST00000645140.1:c.2864A>G
ENST00000645206.1:n.1466A>G
ENST00000645929.1:c.2115A>G	ENSP00000494402.1:p.Val705=
ENST00000646340.1:c.2958A>G	ENSP00000496730.1:p.Val986=
ENST00000646647.2:c.2952A>G MANE Select	ENSP00000495240.1:p.Val984=
ENST00000399982.6:c.2952A>G	ENSP00000382863.2:p.Val984=
ENST00000430710.7:c.2115A>G	ENSP00000406288.3:p.Val705=
ENST00000555935.1:c.628A>G
ENST00000555962.5:n.151-2778A>G
ENST00000557364.5:c.2952A>G	ENSP00000451601.1:p.Val984=
NM_001170629.1:c.2952A>G	NP_001164100.1:p.Val984=
NM_020920.3:c.2115A>G	NP_065971.2:p.Val705=
NM_001170629.2:c.2952A>G MANE Select	NP_001164100.1:p.Val984=
NM_020920.4:c.2115A>G	NP_065971.2:p.Val705=