Canonical Allele Identifier: CA2624079475

Gene: CHD8

Linked Data

• gnomAD v4: 14-21394884-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394884T>C , CM000676.2:g.21394884T>C	GRCh38
NC_000014.8:g.21863043T>C , CM000676.1:g.21863043T>C	GRCh37
NC_000014.7:g.20932883T>C	NCBI36
NG_021249.1:g.47415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4553+28A>G	ENSP00000406288.3:n.4553+28A>G
ENST00000555935.2:c.3090+28A>G
ENST00000557364.6:c.5390+28A>G	ENSP00000451601.1:n.5390+28A>G
ENST00000643469.1:c.5390+28A>G	ENSP00000495070.1:n.5390+28A>G
ENST00000645206.1:n.4546+28A>G
ENST00000645929.1:c.4553+28A>G	ENSP00000494402.1:n.4553+28A>G
ENST00000646340.1:c.5396+28A>G	ENSP00000496730.1:n.5396+28A>G
ENST00000646647.2:c.5390+28A>G MANE Select	ENSP00000495240.1:n.5390+28A>G
ENST00000399982.6:c.5390+28A>G	ENSP00000382863.2:n.5390+28A>G
ENST00000430710.7:c.4553+28A>G	ENSP00000406288.3:n.4553+28A>G
ENST00000555301.1:n.103+28A>G
ENST00000557364.5:c.5390+28A>G	ENSP00000451601.1:n.5390+28A>G
NM_001170629.1:c.5390+28A>G	NP_001164100.1:n.5390+28A>G
NM_020920.3:c.4553+28A>G	NP_065971.2:n.4553+28A>G
NM_001170629.2:c.5390+28A>G MANE Select	NP_001164100.1:n.5390+28A>G
NM_020920.4:c.4553+28A>G	NP_065971.2:n.4553+28A>G