Canonical Allele Identifier: CA388880242

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393610-T-G
• MyVariant Identifiers: chr14:g.21861769T>G (hg19) ; chr14:g.21393610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393610T>G , CM000676.2:g.21393610T>G	GRCh38
NC_000014.8:g.21861769T>G , CM000676.1:g.21861769T>G	GRCh37
NC_000014.7:g.20931609T>G	NCBI36
NG_021249.1:g.48689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5348A>C	ENSP00000406288.3:p.Lys1783Thr
ENST00000555935.2:c.3885A>C
ENST00000557364.6:c.6185A>C	ENSP00000451601.1:p.Lys2062Thr
ENST00000643469.1:c.6185A>C	ENSP00000495070.1:p.Lys2062Thr
ENST00000645206.1:n.5341A>C
ENST00000645929.1:c.5348A>C	ENSP00000494402.1:p.Lys1783Thr
ENST00000646647.2:c.6185A>C MANE Select	ENSP00000495240.1:p.Lys2062Thr
ENST00000399982.6:c.6185A>C	ENSP00000382863.2:p.Lys2062Thr
ENST00000430710.7:c.5348A>C	ENSP00000406288.3:p.Lys1783Thr
ENST00000557364.5:c.6185A>C	ENSP00000451601.1:p.Lys2062Thr
NM_001170629.1:c.6185A>C	NP_001164100.1:p.Lys2062Thr
NM_020920.3:c.5348A>C	NP_065971.2:p.Lys1783Thr
NM_001170629.2:c.6185A>C MANE Select	NP_001164100.1:p.Lys2062Thr
NM_020920.4:c.5348A>C	NP_065971.2:p.Lys1783Thr