Canonical Allele Identifier: CA388880287

Gene: CHD8

Linked Data

• dbSNP Id: rs1301235558
• MyVariant Identifiers: chr14:g.21861794C>A (hg19) ; chr14:g.21393635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393635C>A , CM000676.2:g.21393635C>A	GRCh38
NC_000014.8:g.21861794C>A , CM000676.1:g.21861794C>A	GRCh37
NC_000014.7:g.20931634C>A	NCBI36
NG_021249.1:g.48664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5323G>T	ENSP00000406288.3:p.Val1775Phe
ENST00000555935.2:c.3860G>T
ENST00000557364.6:c.6160G>T	ENSP00000451601.1:p.Val2054Phe
ENST00000643469.1:c.6160G>T	ENSP00000495070.1:p.Val2054Phe
ENST00000645206.1:n.5316G>T
ENST00000645929.1:c.5323G>T	ENSP00000494402.1:p.Val1775Phe
ENST00000646647.2:c.6160G>T MANE Select	ENSP00000495240.1:p.Val2054Phe
ENST00000399982.6:c.6160G>T	ENSP00000382863.2:p.Val2054Phe
ENST00000430710.7:c.5323G>T	ENSP00000406288.3:p.Val1775Phe
ENST00000557364.5:c.6160G>T	ENSP00000451601.1:p.Val2054Phe
NM_001170629.1:c.6160G>T	NP_001164100.1:p.Val2054Phe
NM_020920.3:c.5323G>T	NP_065971.2:p.Val1775Phe
NM_001170629.2:c.6160G>T MANE Select	NP_001164100.1:p.Val2054Phe
NM_020920.4:c.5323G>T	NP_065971.2:p.Val1775Phe