Canonical Allele Identifier: CA388884445

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2836101
• ClinVar RCV Id: RCV003689902
• MyVariant Identifiers: chr14:g.21897155A>G (hg19) ; chr14:g.21428996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21428996A>G , CM000676.2:g.21428996A>G	GRCh38
NC_000014.8:g.21897155A>G , CM000676.1:g.21897155A>G	GRCh37
NC_000014.7:g.20966995A>G	NCBI36
NG_021249.1:g.13303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.346T>C	ENSP00000406288.3:p.Ser116Pro
ENST00000553651.2:n.2989T>C
ENST00000555962.6:c.-111+2815T>C	ENSP00000495174.1:n.-111+2815T>C
ENST00000557364.6:c.1183T>C	ENSP00000451601.1:p.Ser395Pro
ENST00000642518.1:c.346T>C	ENSP00000496722.1:p.Ser116Pro
ENST00000643048.1:n.1478T>C
ENST00000643469.1:c.1183T>C	ENSP00000495070.1:p.Ser395Pro
ENST00000645140.1:c.1095T>C
ENST00000645929.1:c.346T>C	ENSP00000494402.1:p.Ser116Pro
ENST00000646063.1:c.1270T>C	ENSP00000496565.1:p.Ser424Pro
ENST00000646340.1:c.1189T>C	ENSP00000496730.1:p.Ser397Pro
ENST00000646647.2:c.1183T>C MANE Select	ENSP00000495240.1:p.Ser395Pro
ENST00000399982.6:c.1183T>C	ENSP00000382863.2:p.Ser395Pro
ENST00000430710.7:c.346T>C	ENSP00000406288.3:p.Ser116Pro
ENST00000555962.5:n.150+2815T>C
ENST00000557364.5:c.1183T>C	ENSP00000451601.1:p.Ser395Pro
NM_001170629.1:c.1183T>C	NP_001164100.1:p.Ser395Pro
NM_020920.3:c.346T>C	NP_065971.2:p.Ser116Pro
NM_001170629.2:c.1183T>C MANE Select	NP_001164100.1:p.Ser395Pro
NM_020920.4:c.346T>C	NP_065971.2:p.Ser116Pro