Canonical Allele Identifier: CA388885211

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897344C>A (hg19) ; chr14:g.21429185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429185C>A , CM000676.2:g.21429185C>A	GRCh38
NC_000014.8:g.21897344C>A , CM000676.1:g.21897344C>A	GRCh37
NC_000014.7:g.20967184C>A	NCBI36
NG_021249.1:g.13114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.157G>T	ENSP00000406288.3:p.Gly53Trp
ENST00000553651.2:n.2800G>T
ENST00000555962.6:c.-111+2626G>T	ENSP00000495174.1:n.-111+2626G>T
ENST00000557364.6:c.994G>T	ENSP00000451601.1:p.Gly332Trp
ENST00000642518.1:c.157G>T	ENSP00000496722.1:p.Gly53Trp
ENST00000643048.1:n.1289G>T
ENST00000643469.1:c.994G>T	ENSP00000495070.1:p.Gly332Trp
ENST00000645140.1:c.906G>T
ENST00000645929.1:c.157G>T	ENSP00000494402.1:p.Gly53Trp
ENST00000646063.1:c.1081G>T	ENSP00000496565.1:p.Gly361Trp
ENST00000646340.1:c.1000G>T	ENSP00000496730.1:p.Gly334Trp
ENST00000646647.2:c.994G>T MANE Select	ENSP00000495240.1:p.Gly332Trp
ENST00000399982.6:c.994G>T	ENSP00000382863.2:p.Gly332Trp
ENST00000430710.7:c.157G>T	ENSP00000406288.3:p.Gly53Trp
ENST00000553283.1:c.247G>T	ENSP00000450860.1:p.Gly83Trp
ENST00000555962.5:n.150+2626G>T
ENST00000557364.5:c.994G>T	ENSP00000451601.1:p.Gly332Trp
NM_001170629.1:c.994G>T	NP_001164100.1:p.Gly332Trp
NM_020920.3:c.157G>T	NP_065971.2:p.Gly53Trp
NM_001170629.2:c.994G>T MANE Select	NP_001164100.1:p.Gly332Trp
NM_020920.4:c.157G>T	NP_065971.2:p.Gly53Trp