Canonical Allele Identifier: CA612383871

Gene: CHD8

Linked Data

• dbSNP Id: rs1192200923
• gnomAD v2: 14-21874154-GTGATCTGGT-G
• MyVariant Identifiers: chr14:g.21874155_21874163del (hg19) ; chr14:g.21405996_21406004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405996_21406004del , CM000676.2:g.21405996_21406004del	GRCh38
NC_000014.8:g.21874155_21874163del , CM000676.1:g.21874155_21874163del	GRCh37
NC_000014.7:g.20943995_20944003del	NCBI36
NG_021249.1:g.36295_36303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-140_2071-132del	ENSP00000406288.3:n.2071-140_2071-132del
ENST00000555935.2:c.584-140_584-132del
ENST00000555962.6:c.-110-2962_-110-2954del	ENSP00000495174.1:n.-110-2962_-110-2954del
ENST00000557364.6:c.2908-140_2908-132del	ENSP00000451601.1:n.2908-140_2908-132del
ENST00000643469.1:c.2908-140_2908-132del	ENSP00000495070.1:n.2908-140_2908-132del
ENST00000645140.1:c.2820-140_2820-132del
ENST00000645206.1:n.1422-140_1422-132del
ENST00000645929.1:c.2071-140_2071-132del	ENSP00000494402.1:n.2071-140_2071-132del
ENST00000646340.1:c.2914-140_2914-132del	ENSP00000496730.1:n.2914-140_2914-132del
ENST00000646647.2:c.2908-140_2908-132del MANE Select	ENSP00000495240.1:n.2908-140_2908-132del
ENST00000399982.6:c.2908-140_2908-132del	ENSP00000382863.2:n.2908-140_2908-132del
ENST00000430710.7:c.2071-140_2071-132del	ENSP00000406288.3:n.2071-140_2071-132del
ENST00000555935.1:c.584-140_584-132del
ENST00000555962.5:n.151-2962_151-2954del
ENST00000557364.5:c.2908-140_2908-132del	ENSP00000451601.1:n.2908-140_2908-132del
NM_001170629.1:c.2908-140_2908-132del	NP_001164100.1:n.2908-140_2908-132del
NM_020920.3:c.2071-140_2071-132del	NP_065971.2:n.2071-140_2071-132del
NM_001170629.2:c.2908-140_2908-132del MANE Select	NP_001164100.1:n.2908-140_2908-132del
NM_020920.4:c.2071-140_2071-132del	NP_065971.2:n.2071-140_2071-132del