Canonical Allele Identifier: CA7091214

Gene: CHD8

Linked Data

• ClinVar Variation Id: 589140
• ClinVar RCV Id: RCV002269307 ; RCV002318080
• dbSNP Id: rs754553508
• ExAC: 14:21868680 C / G
• gnomAD v2: 14-21868680-C-G
• gnomAD v3: 14-21400521-C-G
• gnomAD v4: 14-21400521-C-G
• MyVariant Identifiers: chr14:g.21868680C>G (hg19) ; chr14:g.21400521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400521C>G , CM000676.2:g.21400521C>G	GRCh38
NC_000014.8:g.21868680C>G , CM000676.1:g.21868680C>G	GRCh37
NC_000014.7:g.20938520C>G	NCBI36
NG_021249.1:g.41778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3625G>C	ENSP00000406288.3:p.Val1209Leu
ENST00000555935.2:c.2138G>C
ENST00000555962.6:c.265-214G>C	ENSP00000495174.1:n.265-214G>C
ENST00000557364.6:c.4462G>C	ENSP00000451601.1:p.Val1488Leu
ENST00000643469.1:c.4462G>C	ENSP00000495070.1:p.Val1488Leu
ENST00000645206.1:n.2976G>C
ENST00000645929.1:c.3625G>C	ENSP00000494402.1:p.Val1209Leu
ENST00000646340.1:c.4468G>C	ENSP00000496730.1:p.Val1490Leu
ENST00000646558.1:n.1278G>C
ENST00000646647.2:c.4462G>C MANE Select	ENSP00000495240.1:p.Val1488Leu
ENST00000399982.6:c.4462G>C	ENSP00000382863.2:p.Val1488Leu
ENST00000430710.7:c.3625G>C	ENSP00000406288.3:p.Val1209Leu
ENST00000555935.1:c.2138G>C
ENST00000555962.5:n.525-214G>C
ENST00000557364.5:c.4462G>C	ENSP00000451601.1:p.Val1488Leu
NM_001170629.1:c.4462G>C	NP_001164100.1:p.Val1488Leu
NM_020920.3:c.3625G>C	NP_065971.2:p.Val1209Leu
NM_001170629.2:c.4462G>C MANE Select	NP_001164100.1:p.Val1488Leu
NM_020920.4:c.3625G>C	NP_065971.2:p.Val1209Leu