Canonical Allele Identifier: CA388903243

Gene: CHD8

Linked Data

• dbSNP Id: rs1306825716
• gnomAD v2: 14-21873909-C-A
• gnomAD v4: 14-21405750-C-A
• MyVariant Identifiers: chr14:g.21873909C>A (hg19) ; chr14:g.21405750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405750C>A , CM000676.2:g.21405750C>A	GRCh38
NC_000014.8:g.21873909C>A , CM000676.1:g.21873909C>A	GRCh37
NC_000014.7:g.20943749C>A	NCBI36
NG_021249.1:g.36549G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2185G>T	ENSP00000406288.3:p.Asp729Tyr
ENST00000555935.2:c.698G>T
ENST00000555962.6:c.-110-2708G>T	ENSP00000495174.1:n.-110-2708G>T
ENST00000557364.6:c.3022G>T	ENSP00000451601.1:p.Asp1008Tyr
ENST00000643469.1:c.3022G>T	ENSP00000495070.1:p.Asp1008Tyr
ENST00000645140.1:c.2934G>T
ENST00000645206.1:n.1536G>T
ENST00000645929.1:c.2185G>T	ENSP00000494402.1:p.Asp729Tyr
ENST00000646340.1:c.3028G>T	ENSP00000496730.1:p.Asp1010Tyr
ENST00000646647.2:c.3022G>T MANE Select	ENSP00000495240.1:p.Asp1008Tyr
ENST00000399982.6:c.3022G>T	ENSP00000382863.2:p.Asp1008Tyr
ENST00000430710.7:c.2185G>T	ENSP00000406288.3:p.Asp729Tyr
ENST00000555935.1:c.698G>T
ENST00000555962.5:n.151-2708G>T
ENST00000557364.5:c.3022G>T	ENSP00000451601.1:p.Asp1008Tyr
NM_001170629.1:c.3022G>T	NP_001164100.1:p.Asp1008Tyr
NM_020920.3:c.2185G>T	NP_065971.2:p.Asp729Tyr
NM_001170629.2:c.3022G>T MANE Select	NP_001164100.1:p.Asp1008Tyr
NM_020920.4:c.2185G>T	NP_065971.2:p.Asp729Tyr