Canonical Allele Identifier: CA7091685

Gene: CHD8

Linked Data

• dbSNP Id: rs758409619
• ExAC: 14:21883837 G / A
• gnomAD v2: 14-21883837-G-A
• gnomAD v4: 14-21415678-G-A
• MyVariant Identifiers: chr14:g.21883837G>A (hg19) ; chr14:g.21415678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415678G>A , CM000676.2:g.21415678G>A	GRCh38
NC_000014.8:g.21883837G>A , CM000676.1:g.21883837G>A	GRCh37
NC_000014.7:g.20953677G>A	NCBI36
NG_021249.1:g.26621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1063-36C>T	ENSP00000406288.3:n.1063-36C>T
ENST00000555962.6:c.-110-12636C>T	ENSP00000495174.1:n.-110-12636C>T
ENST00000557364.6:c.1900-36C>T	ENSP00000451601.1:n.1900-36C>T
ENST00000642914.1:n.883-36C>T
ENST00000643469.1:c.1900-36C>T	ENSP00000495070.1:n.1900-36C>T
ENST00000645140.1:c.1812-36C>T
ENST00000645206.1:n.414-36C>T
ENST00000645929.1:c.1063-36C>T	ENSP00000494402.1:n.1063-36C>T
ENST00000646340.1:c.1906-36C>T	ENSP00000496730.1:n.1906-36C>T
ENST00000646647.2:c.1900-36C>T MANE Select	ENSP00000495240.1:n.1900-36C>T
ENST00000399982.6:c.1900-36C>T	ENSP00000382863.2:n.1900-36C>T
ENST00000430710.7:c.1063-36C>T	ENSP00000406288.3:n.1063-36C>T
ENST00000555962.5:n.151-12636C>T
ENST00000557364.5:c.1900-36C>T	ENSP00000451601.1:n.1900-36C>T
NM_001170629.1:c.1900-36C>T	NP_001164100.1:n.1900-36C>T
NM_020920.3:c.1063-36C>T	NP_065971.2:n.1063-36C>T
NM_001170629.2:c.1900-36C>T MANE Select	NP_001164100.1:n.1900-36C>T
NM_020920.4:c.1063-36C>T	NP_065971.2:n.1063-36C>T