Canonical Allele Identifier: CA484991432

Gene: CHD8

Linked Data

• dbSNP Id: rs1481872606
• gnomAD v2: 14-21897213-C-G
• gnomAD v4: 14-21429054-C-G
• MyVariant Identifiers: chr14:g.21897213C>G (hg19) ; chr14:g.21429054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429054C>G , CM000676.2:g.21429054C>G	GRCh38
NC_000014.8:g.21897213C>G , CM000676.1:g.21897213C>G	GRCh37
NC_000014.7:g.20967053C>G	NCBI36
NG_021249.1:g.13245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.288G>C	ENSP00000406288.3:p.Leu96=
ENST00000553651.2:n.2931G>C
ENST00000555962.6:c.-111+2757G>C	ENSP00000495174.1:n.-111+2757G>C
ENST00000557364.6:c.1125G>C	ENSP00000451601.1:p.Leu375=
ENST00000642518.1:c.288G>C	ENSP00000496722.1:p.Leu96=
ENST00000643048.1:n.1420G>C
ENST00000643469.1:c.1125G>C	ENSP00000495070.1:p.Leu375=
ENST00000645140.1:c.1037G>C
ENST00000645929.1:c.288G>C	ENSP00000494402.1:p.Leu96=
ENST00000646063.1:c.1212G>C	ENSP00000496565.1:p.Leu404=
ENST00000646340.1:c.1131G>C	ENSP00000496730.1:p.Leu377=
ENST00000646647.2:c.1125G>C MANE Select	ENSP00000495240.1:p.Leu375=
ENST00000399982.6:c.1125G>C	ENSP00000382863.2:p.Leu375=
ENST00000430710.7:c.288G>C	ENSP00000406288.3:p.Leu96=
ENST00000555962.5:n.150+2757G>C
ENST00000557364.5:c.1125G>C	ENSP00000451601.1:p.Leu375=
NM_001170629.1:c.1125G>C	NP_001164100.1:p.Leu375=
NM_020920.3:c.288G>C	NP_065971.2:p.Leu96=
NM_001170629.2:c.1125G>C MANE Select	NP_001164100.1:p.Leu375=
NM_020920.4:c.288G>C	NP_065971.2:p.Leu96=