Canonical Allele Identifier: CA388894134

Gene: CHD8

Linked Data

• dbSNP Id: rs1230883478
• gnomAD v2: 14-21868714-T-G
• gnomAD v4: 14-21400555-T-G
• MyVariant Identifiers: chr14:g.21868714T>G (hg19) ; chr14:g.21400555T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400555T>G , CM000676.2:g.21400555T>G	GRCh38
NC_000014.8:g.21868714T>G , CM000676.1:g.21868714T>G	GRCh37
NC_000014.7:g.20938554T>G	NCBI36
NG_021249.1:g.41744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3591A>C	ENSP00000406288.3:p.Glu1197Asp
ENST00000555935.2:c.2104A>C
ENST00000555962.6:c.265-248A>C	ENSP00000495174.1:n.265-248A>C
ENST00000557364.6:c.4428A>C	ENSP00000451601.1:p.Glu1476Asp
ENST00000643469.1:c.4428A>C	ENSP00000495070.1:p.Glu1476Asp
ENST00000645206.1:n.2942A>C
ENST00000645929.1:c.3591A>C	ENSP00000494402.1:p.Glu1197Asp
ENST00000646340.1:c.4434A>C	ENSP00000496730.1:p.Glu1478Asp
ENST00000646558.1:n.1244A>C
ENST00000646647.2:c.4428A>C MANE Select	ENSP00000495240.1:p.Glu1476Asp
ENST00000399982.6:c.4428A>C	ENSP00000382863.2:p.Glu1476Asp
ENST00000430710.7:c.3591A>C	ENSP00000406288.3:p.Glu1197Asp
ENST00000555935.1:c.2104A>C
ENST00000555962.5:n.525-248A>C
ENST00000557364.5:c.4428A>C	ENSP00000451601.1:p.Glu1476Asp
NM_001170629.1:c.4428A>C	NP_001164100.1:p.Glu1476Asp
NM_020920.3:c.3591A>C	NP_065971.2:p.Glu1197Asp
NM_001170629.2:c.4428A>C MANE Select	NP_001164100.1:p.Glu1476Asp
NM_020920.4:c.3591A>C	NP_065971.2:p.Glu1197Asp