Canonical Allele Identifier: CA484986712

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878025T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409866T>G , CM000676.2:g.21409866T>G	GRCh38
NC_000014.8:g.21878025T>G , CM000676.1:g.21878025T>G	GRCh37
NC_000014.7:g.20947865T>G	NCBI36
NG_021249.1:g.32433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1512A>C	ENSP00000406288.3:p.Pro504=
ENST00000555935.2:c.25A>C
ENST00000555962.6:c.-110-6824A>C	ENSP00000495174.1:n.-110-6824A>C
ENST00000557364.6:c.2349A>C	ENSP00000451601.1:p.Pro783=
ENST00000643469.1:c.2349A>C	ENSP00000495070.1:p.Pro783=
ENST00000645140.1:c.2261A>C
ENST00000645206.1:n.863A>C
ENST00000645929.1:c.1512A>C	ENSP00000494402.1:p.Pro504=
ENST00000646340.1:c.2355A>C	ENSP00000496730.1:p.Pro785=
ENST00000646647.2:c.2349A>C MANE Select	ENSP00000495240.1:p.Pro783=
ENST00000399982.6:c.2349A>C	ENSP00000382863.2:p.Pro783=
ENST00000430710.7:c.1512A>C	ENSP00000406288.3:p.Pro504=
ENST00000554384.1:n.217A>C
ENST00000555935.1:c.25A>C
ENST00000555962.5:n.151-6824A>C
ENST00000557364.5:c.2349A>C	ENSP00000451601.1:p.Pro783=
NM_001170629.1:c.2349A>C	NP_001164100.1:p.Pro783=
NM_020920.3:c.1512A>C	NP_065971.2:p.Pro504=
NM_001170629.2:c.2349A>C MANE Select	NP_001164100.1:p.Pro783=
NM_020920.4:c.1512A>C	NP_065971.2:p.Pro504=