Canonical Allele Identifier: CA388885162

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897335C>G (hg19) ; chr14:g.21429176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429176C>G , CM000676.2:g.21429176C>G	GRCh38
NC_000014.8:g.21897335C>G , CM000676.1:g.21897335C>G	GRCh37
NC_000014.7:g.20967175C>G	NCBI36
NG_021249.1:g.13123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.166G>C	ENSP00000406288.3:p.Ala56Pro
ENST00000553651.2:n.2809G>C
ENST00000555962.6:c.-111+2635G>C	ENSP00000495174.1:n.-111+2635G>C
ENST00000557364.6:c.1003G>C	ENSP00000451601.1:p.Ala335Pro
ENST00000642518.1:c.166G>C	ENSP00000496722.1:p.Ala56Pro
ENST00000643048.1:n.1298G>C
ENST00000643469.1:c.1003G>C	ENSP00000495070.1:p.Ala335Pro
ENST00000645140.1:c.915G>C
ENST00000645929.1:c.166G>C	ENSP00000494402.1:p.Ala56Pro
ENST00000646063.1:c.1090G>C	ENSP00000496565.1:p.Ala364Pro
ENST00000646340.1:c.1009G>C	ENSP00000496730.1:p.Ala337Pro
ENST00000646647.2:c.1003G>C MANE Select	ENSP00000495240.1:p.Ala335Pro
ENST00000399982.6:c.1003G>C	ENSP00000382863.2:p.Ala335Pro
ENST00000430710.7:c.166G>C	ENSP00000406288.3:p.Ala56Pro
ENST00000553283.1:c.256G>C	ENSP00000450860.1:p.Ala86Pro
ENST00000555962.5:n.150+2635G>C
ENST00000557364.5:c.1003G>C	ENSP00000451601.1:p.Ala335Pro
NM_001170629.1:c.1003G>C	NP_001164100.1:p.Ala335Pro
NM_020920.3:c.166G>C	NP_065971.2:p.Ala56Pro
NM_001170629.2:c.1003G>C MANE Select	NP_001164100.1:p.Ala335Pro
NM_020920.4:c.166G>C	NP_065971.2:p.Ala56Pro