Canonical Allele Identifier: CA257546461

Gene: CHD8

Linked Data

• dbSNP Id: rs980331866
• gnomAD v3: 14-21409800-A-T
• gnomAD v4: 14-21409800-A-T
• MyVariant Identifiers: chr14:g.21877959A>T (hg19) ; chr14:g.21409800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409800A>T , CM000676.2:g.21409800A>T	GRCh38
NC_000014.8:g.21877959A>T , CM000676.1:g.21877959A>T	GRCh37
NC_000014.7:g.20947799A>T	NCBI36
NG_021249.1:g.32499T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1527+51T>A	ENSP00000406288.3:n.1527+51T>A
ENST00000555935.2:c.40+51T>A
ENST00000555962.6:c.-110-6758T>A	ENSP00000495174.1:n.-110-6758T>A
ENST00000557364.6:c.2364+51T>A	ENSP00000451601.1:n.2364+51T>A
ENST00000643469.1:c.2364+51T>A	ENSP00000495070.1:n.2364+51T>A
ENST00000645140.1:c.2276+51T>A
ENST00000645206.1:n.878+51T>A
ENST00000645929.1:c.1527+51T>A	ENSP00000494402.1:n.1527+51T>A
ENST00000646340.1:c.2370+51T>A	ENSP00000496730.1:n.2370+51T>A
ENST00000646647.2:c.2364+51T>A MANE Select	ENSP00000495240.1:n.2364+51T>A
ENST00000399982.6:c.2364+51T>A	ENSP00000382863.2:n.2364+51T>A
ENST00000430710.7:c.1527+51T>A	ENSP00000406288.3:n.1527+51T>A
ENST00000554384.1:n.232+51T>A
ENST00000555935.1:c.40+51T>A
ENST00000555962.5:n.151-6758T>A
ENST00000557364.5:c.2364+51T>A	ENSP00000451601.1:n.2364+51T>A
NM_001170629.1:c.2364+51T>A	NP_001164100.1:n.2364+51T>A
NM_020920.3:c.1527+51T>A	NP_065971.2:n.1527+51T>A
NM_001170629.2:c.2364+51T>A MANE Select	NP_001164100.1:n.2364+51T>A
NM_020920.4:c.1527+51T>A	NP_065971.2:n.1527+51T>A