Canonical Allele Identifier: CA388877048

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21859651C>G (hg19) ; chr14:g.21391492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391492C>G , CM000676.2:g.21391492C>G	GRCh38
NC_000014.8:g.21859651C>G , CM000676.1:g.21859651C>G	GRCh37
NC_000014.7:g.20929491C>G	NCBI36
NG_021249.1:g.50807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6199G>C	ENSP00000406288.3:p.Glu2067Gln
ENST00000553870.2:c.437+341G>C
ENST00000555935.2:c.4736G>C
ENST00000557364.6:c.7036G>C	ENSP00000451601.1:p.Glu2346Gln
ENST00000643469.1:c.7036G>C	ENSP00000495070.1:p.Glu2346Gln
ENST00000645206.1:n.6192G>C
ENST00000645929.1:c.6199G>C	ENSP00000494402.1:p.Glu2067Gln
ENST00000646647.2:c.7036G>C MANE Select	ENSP00000495240.1:p.Glu2346Gln
ENST00000399982.6:c.7036G>C	ENSP00000382863.2:p.Glu2346Gln
ENST00000430710.7:c.6199G>C	ENSP00000406288.3:p.Glu2067Gln
ENST00000553870.1:c.396+341G>C	ENSP00000451071.1:n.396+341G>C
ENST00000557364.5:c.7036G>C	ENSP00000451601.1:p.Glu2346Gln
NM_001170629.1:c.7036G>C	NP_001164100.1:p.Glu2346Gln
NM_020920.3:c.6199G>C	NP_065971.2:p.Glu2067Gln
XR_001750627.1:n.704C>G
NM_001170629.2:c.7036G>C MANE Select	NP_001164100.1:p.Glu2346Gln
NM_020920.4:c.6199G>C	NP_065971.2:p.Glu2067Gln