Canonical Allele Identifier: CA388903430

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21873949C>A (hg19) ; chr14:g.21405790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405790C>A , CM000676.2:g.21405790C>A	GRCh38
NC_000014.8:g.21873949C>A , CM000676.1:g.21873949C>A	GRCh37
NC_000014.7:g.20943789C>A	NCBI36
NG_021249.1:g.36509G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2145G>T	ENSP00000406288.3:p.Leu715Phe
ENST00000555935.2:c.658G>T
ENST00000555962.6:c.-110-2748G>T	ENSP00000495174.1:n.-110-2748G>T
ENST00000557364.6:c.2982G>T	ENSP00000451601.1:p.Leu994Phe
ENST00000643469.1:c.2982G>T	ENSP00000495070.1:p.Leu994Phe
ENST00000645140.1:c.2894G>T
ENST00000645206.1:n.1496G>T
ENST00000645929.1:c.2145G>T	ENSP00000494402.1:p.Leu715Phe
ENST00000646340.1:c.2988G>T	ENSP00000496730.1:p.Leu996Phe
ENST00000646647.2:c.2982G>T MANE Select	ENSP00000495240.1:p.Leu994Phe
ENST00000399982.6:c.2982G>T	ENSP00000382863.2:p.Leu994Phe
ENST00000430710.7:c.2145G>T	ENSP00000406288.3:p.Leu715Phe
ENST00000555935.1:c.658G>T
ENST00000555962.5:n.151-2748G>T
ENST00000557364.5:c.2982G>T	ENSP00000451601.1:p.Leu994Phe
NM_001170629.1:c.2982G>T	NP_001164100.1:p.Leu994Phe
NM_020920.3:c.2145G>T	NP_065971.2:p.Leu715Phe
NM_001170629.2:c.2982G>T MANE Select	NP_001164100.1:p.Leu994Phe
NM_020920.4:c.2145G>T	NP_065971.2:p.Leu715Phe