Canonical Allele Identifier: CA7091590

Gene: CHD8

Linked Data

• ClinVar Variation Id: 493140
• ClinVar RCV Id: RCV000585465
• dbSNP Id: rs748109741
• ExAC: 14:21878008 A / G
• gnomAD v2: 14-21878008-A-G
• gnomAD v3: 14-21409849-A-G
• gnomAD v4: 14-21409849-A-G
• MyVariant Identifiers: chr14:g.21878008A>G (hg19) ; chr14:g.21409849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409849A>G , CM000676.2:g.21409849A>G	GRCh38
NC_000014.8:g.21878008A>G , CM000676.1:g.21878008A>G	GRCh37
NC_000014.7:g.20947848A>G	NCBI36
NG_021249.1:g.32450T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1527+2T>C	ENSP00000406288.3:n.1527+2T>C
ENST00000555935.2:c.40+2T>C
ENST00000555962.6:c.-110-6807T>C	ENSP00000495174.1:n.-110-6807T>C
ENST00000557364.6:c.2364+2T>C	ENSP00000451601.1:n.2364+2T>C
ENST00000643469.1:c.2364+2T>C	ENSP00000495070.1:n.2364+2T>C
ENST00000645140.1:c.2276+2T>C
ENST00000645206.1:n.878+2T>C
ENST00000645929.1:c.1527+2T>C	ENSP00000494402.1:n.1527+2T>C
ENST00000646340.1:c.2370+2T>C	ENSP00000496730.1:n.2370+2T>C
ENST00000646647.2:c.2364+2T>C MANE Select	ENSP00000495240.1:n.2364+2T>C
ENST00000399982.6:c.2364+2T>C	ENSP00000382863.2:n.2364+2T>C
ENST00000430710.7:c.1527+2T>C	ENSP00000406288.3:n.1527+2T>C
ENST00000554384.1:n.232+2T>C
ENST00000555935.1:c.40+2T>C
ENST00000555962.5:n.151-6807T>C
ENST00000557364.5:c.2364+2T>C	ENSP00000451601.1:n.2364+2T>C
NM_001170629.1:c.2364+2T>C	NP_001164100.1:n.2364+2T>C
NM_020920.3:c.1527+2T>C	NP_065971.2:n.1527+2T>C
NM_001170629.2:c.2364+2T>C MANE Select	NP_001164100.1:n.2364+2T>C
NM_020920.4:c.1527+2T>C	NP_065971.2:n.1527+2T>C