Canonical Allele Identifier: CA388874224

Gene: CHD8

Linked Data

• gnomAD v4: 14-21406996-G-C
• MyVariant Identifiers: chr14:g.21875155G>C (hg19) ; chr14:g.21406996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406996G>C , CM000676.2:g.21406996G>C	GRCh38
NC_000014.8:g.21875155G>C , CM000676.1:g.21875155G>C	GRCh37
NC_000014.7:g.20944995G>C	NCBI36
NG_021249.1:g.35303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1930C>G	ENSP00000406288.3:p.Leu644Val
ENST00000555935.2:c.443C>G
ENST00000555962.6:c.-110-3954C>G	ENSP00000495174.1:n.-110-3954C>G
ENST00000557364.6:c.2767C>G	ENSP00000451601.1:p.Leu923Val
ENST00000643469.1:c.2767C>G	ENSP00000495070.1:p.Leu923Val
ENST00000645140.1:c.2679C>G
ENST00000645206.1:n.1281C>G
ENST00000645929.1:c.1930C>G	ENSP00000494402.1:p.Leu644Val
ENST00000646340.1:c.2773C>G	ENSP00000496730.1:p.Leu925Val
ENST00000646647.2:c.2767C>G MANE Select	ENSP00000495240.1:p.Leu923Val
ENST00000399982.6:c.2767C>G	ENSP00000382863.2:p.Leu923Val
ENST00000430710.7:c.1930C>G	ENSP00000406288.3:p.Leu644Val
ENST00000555935.1:c.443C>G
ENST00000555962.5:n.151-3954C>G
ENST00000557364.5:c.2767C>G	ENSP00000451601.1:p.Leu923Val
NM_001170629.1:c.2767C>G	NP_001164100.1:p.Leu923Val
NM_020920.3:c.1930C>G	NP_065971.2:p.Leu644Val
NM_001170629.2:c.2767C>G MANE Select	NP_001164100.1:p.Leu923Val
NM_020920.4:c.1930C>G	NP_065971.2:p.Leu644Val