Canonical Allele Identifier: CA388884467

Gene: CHD8

Linked Data

• dbSNP Id: rs1160633613
• gnomAD v2: 14-21897159-T-G
• gnomAD v3: 14-21429000-T-G
• gnomAD v4: 14-21429000-T-G
• MyVariant Identifiers: chr14:g.21897159T>G (hg19) ; chr14:g.21429000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429000T>G , CM000676.2:g.21429000T>G	GRCh38
NC_000014.8:g.21897159T>G , CM000676.1:g.21897159T>G	GRCh37
NC_000014.7:g.20966999T>G	NCBI36
NG_021249.1:g.13299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.342A>C	ENSP00000406288.3:p.Arg114Ser
ENST00000553651.2:n.2985A>C
ENST00000555962.6:c.-111+2811A>C	ENSP00000495174.1:n.-111+2811A>C
ENST00000557364.6:c.1179A>C	ENSP00000451601.1:p.Arg393Ser
ENST00000642518.1:c.342A>C	ENSP00000496722.1:p.Arg114Ser
ENST00000643048.1:n.1474A>C
ENST00000643469.1:c.1179A>C	ENSP00000495070.1:p.Arg393Ser
ENST00000645140.1:c.1091A>C
ENST00000645929.1:c.342A>C	ENSP00000494402.1:p.Arg114Ser
ENST00000646063.1:c.1266A>C	ENSP00000496565.1:p.Arg422Ser
ENST00000646340.1:c.1185A>C	ENSP00000496730.1:p.Arg395Ser
ENST00000646647.2:c.1179A>C MANE Select	ENSP00000495240.1:p.Arg393Ser
ENST00000399982.6:c.1179A>C	ENSP00000382863.2:p.Arg393Ser
ENST00000430710.7:c.342A>C	ENSP00000406288.3:p.Arg114Ser
ENST00000555962.5:n.150+2811A>C
ENST00000557364.5:c.1179A>C	ENSP00000451601.1:p.Arg393Ser
NM_001170629.1:c.1179A>C	NP_001164100.1:p.Arg393Ser
NM_020920.3:c.342A>C	NP_065971.2:p.Arg114Ser
NM_001170629.2:c.1179A>C MANE Select	NP_001164100.1:p.Arg393Ser
NM_020920.4:c.342A>C	NP_065971.2:p.Arg114Ser