Canonical Allele Identifier: CA7091485

Gene: CHD8

Linked Data

• dbSNP Id: rs775559264
• ExAC: 14:21874045 GAATAA / G
• gnomAD v2: 14-21874045-GAATAA-G
• gnomAD v4: 14-21405886-GAATAA-G
• MyVariant Identifiers: chr14:g.21874046_21874050del (hg19) ; chr14:g.21405887_21405891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405890_21405894del , CM000676.2:g.21405890_21405894del	GRCh38
NC_000014.8:g.21874049_21874053del , CM000676.1:g.21874049_21874053del	GRCh37
NC_000014.7:g.20943889_20943893del	NCBI36
NG_021249.1:g.36408_36412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-27_2071-23del	ENSP00000406288.3:n.2071-27_2071-23del
ENST00000555935.2:c.584-27_584-23del
ENST00000555962.6:c.-110-2849_-110-2845del	ENSP00000495174.1:n.-110-2849_-110-2845del
ENST00000557364.6:c.2908-27_2908-23del	ENSP00000451601.1:n.2908-27_2908-23del
ENST00000643469.1:c.2908-27_2908-23del	ENSP00000495070.1:n.2908-27_2908-23del
ENST00000645140.1:c.2820-27_2820-23del
ENST00000645206.1:n.1422-27_1422-23del
ENST00000645929.1:c.2071-27_2071-23del	ENSP00000494402.1:n.2071-27_2071-23del
ENST00000646340.1:c.2914-27_2914-23del	ENSP00000496730.1:n.2914-27_2914-23del
ENST00000646647.2:c.2908-27_2908-23del MANE Select	ENSP00000495240.1:n.2908-27_2908-23del
ENST00000399982.6:c.2908-27_2908-23del	ENSP00000382863.2:n.2908-27_2908-23del
ENST00000430710.7:c.2071-27_2071-23del	ENSP00000406288.3:n.2071-27_2071-23del
ENST00000555935.1:c.584-27_584-23del
ENST00000555962.5:n.151-2849_151-2845del
ENST00000557364.5:c.2908-27_2908-23del	ENSP00000451601.1:n.2908-27_2908-23del
NM_001170629.1:c.2908-27_2908-23del	NP_001164100.1:n.2908-27_2908-23del
NM_020920.3:c.2071-27_2071-23del	NP_065971.2:n.2071-27_2071-23del
NM_001170629.2:c.2908-27_2908-23del MANE Select	NP_001164100.1:n.2908-27_2908-23del
NM_020920.4:c.2071-27_2071-23del	NP_065971.2:n.2071-27_2071-23del