Canonical Allele Identifier: CA388880057

Gene: CHD8

Linked Data

• dbSNP Id: rs1555316543
• MyVariant Identifiers: chr14:g.21884048G>A (hg19) ; chr14:g.21415889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415889G>A , CM000676.2:g.21415889G>A	GRCh38
NC_000014.8:g.21884048G>A , CM000676.1:g.21884048G>A	GRCh37
NC_000014.7:g.20953888G>A	NCBI36
NG_021249.1:g.26410C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.898C>T	ENSP00000406288.3:p.Gln300Ter
ENST00000555962.6:c.-110-12847C>T	ENSP00000495174.1:n.-110-12847C>T
ENST00000557364.6:c.1735C>T	ENSP00000451601.1:p.Gln579Ter
ENST00000642518.1:c.898C>T	ENSP00000496722.1:p.Gln300Ter
ENST00000642914.1:n.718C>T
ENST00000643469.1:c.1735C>T	ENSP00000495070.1:p.Gln579Ter
ENST00000645140.1:c.1647C>T
ENST00000645206.1:n.249C>T
ENST00000645929.1:c.898C>T	ENSP00000494402.1:p.Gln300Ter
ENST00000646340.1:c.1741C>T	ENSP00000496730.1:p.Gln581Ter
ENST00000646647.2:c.1735C>T MANE Select	ENSP00000495240.1:p.Gln579Ter
ENST00000399982.6:c.1735C>T	ENSP00000382863.2:p.Gln579Ter
ENST00000430710.7:c.898C>T	ENSP00000406288.3:p.Gln300Ter
ENST00000555962.5:n.151-12847C>T
ENST00000557364.5:c.1735C>T	ENSP00000451601.1:p.Gln579Ter
NM_001170629.1:c.1735C>T	NP_001164100.1:p.Gln579Ter
NM_020920.3:c.898C>T	NP_065971.2:p.Gln300Ter
NM_001170629.2:c.1735C>T MANE Select	NP_001164100.1:p.Gln579Ter
NM_020920.4:c.898C>T	NP_065971.2:p.Gln300Ter