Canonical Allele Identifier: CA7091231

Gene: CHD8

Linked Data

• dbSNP Id: rs374221070
• ExAC: 14:21868787 C / G
• gnomAD v2: 14-21868787-C-G
• gnomAD v3: 14-21400628-C-G
• gnomAD v4: 14-21400628-C-G
• MyVariant Identifiers: chr14:g.21868787C>G (hg19) ; chr14:g.21400628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400628C>G , CM000676.2:g.21400628C>G	GRCh38
NC_000014.8:g.21868787C>G , CM000676.1:g.21868787C>G	GRCh37
NC_000014.7:g.20938627C>G	NCBI36
NG_021249.1:g.41671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3534-16G>C	ENSP00000406288.3:n.3534-16G>C
ENST00000555935.2:c.2047-16G>C
ENST00000555962.6:c.265-321G>C	ENSP00000495174.1:n.265-321G>C
ENST00000557364.6:c.4371-16G>C	ENSP00000451601.1:n.4371-16G>C
ENST00000643469.1:c.4371-16G>C	ENSP00000495070.1:n.4371-16G>C
ENST00000645206.1:n.2885-16G>C
ENST00000645929.1:c.3534-16G>C	ENSP00000494402.1:n.3534-16G>C
ENST00000646340.1:c.4377-16G>C	ENSP00000496730.1:n.4377-16G>C
ENST00000646558.1:n.1171G>C
ENST00000646647.2:c.4371-16G>C MANE Select	ENSP00000495240.1:n.4371-16G>C
ENST00000399982.6:c.4371-16G>C	ENSP00000382863.2:n.4371-16G>C
ENST00000430710.7:c.3534-16G>C	ENSP00000406288.3:n.3534-16G>C
ENST00000555935.1:c.2047-16G>C
ENST00000555962.5:n.525-321G>C
ENST00000557364.5:c.4371-16G>C	ENSP00000451601.1:n.4371-16G>C
NM_001170629.1:c.4371-16G>C	NP_001164100.1:n.4371-16G>C
NM_020920.3:c.3534-16G>C	NP_065971.2:n.3534-16G>C
NM_001170629.2:c.4371-16G>C MANE Select	NP_001164100.1:n.4371-16G>C
NM_020920.4:c.3534-16G>C	NP_065971.2:n.3534-16G>C