Canonical Allele Identifier: CA484986753

Gene: CHD8

Linked Data

• dbSNP Id: rs1401852691
• gnomAD v4: 14-21409935-T-C
• MyVariant Identifiers: chr14:g.21878094T>C (hg19) ; chr14:g.21409935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409935T>C , CM000676.2:g.21409935T>C	GRCh38
NC_000014.8:g.21878094T>C , CM000676.1:g.21878094T>C	GRCh37
NC_000014.7:g.20947934T>C	NCBI36
NG_021249.1:g.32364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1443A>G	ENSP00000406288.3:p.Thr481=
ENST00000555962.6:c.-110-6893A>G	ENSP00000495174.1:n.-110-6893A>G
ENST00000557364.6:c.2280A>G	ENSP00000451601.1:p.Thr760=
ENST00000643469.1:c.2280A>G	ENSP00000495070.1:p.Thr760=
ENST00000645140.1:c.2192A>G
ENST00000645206.1:n.794A>G
ENST00000645929.1:c.1443A>G	ENSP00000494402.1:p.Thr481=
ENST00000646340.1:c.2286A>G	ENSP00000496730.1:p.Thr762=
ENST00000646647.2:c.2280A>G MANE Select	ENSP00000495240.1:p.Thr760=
ENST00000399982.6:c.2280A>G	ENSP00000382863.2:p.Thr760=
ENST00000430710.7:c.1443A>G	ENSP00000406288.3:p.Thr481=
ENST00000554384.1:n.148A>G
ENST00000555962.5:n.151-6893A>G
ENST00000557364.5:c.2280A>G	ENSP00000451601.1:p.Thr760=
NM_001170629.1:c.2280A>G	NP_001164100.1:p.Thr760=
NM_020920.3:c.1443A>G	NP_065971.2:p.Thr481=
NM_001170629.2:c.2280A>G MANE Select	NP_001164100.1:p.Thr760=
NM_020920.4:c.1443A>G	NP_065971.2:p.Thr481=