Canonical Allele Identifier: CA388879154

Gene: CHD8

Linked Data

• gnomAD v4: 14-21415600-G-T
• MyVariant Identifiers: chr14:g.21883759G>T (hg19) ; chr14:g.21415600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415600G>T , CM000676.2:g.21415600G>T	GRCh38
NC_000014.8:g.21883759G>T , CM000676.1:g.21883759G>T	GRCh37
NC_000014.7:g.20953599G>T	NCBI36
NG_021249.1:g.26699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1105C>A	ENSP00000406288.3:p.Leu369Ile
ENST00000555962.6:c.-110-12558C>A	ENSP00000495174.1:n.-110-12558C>A
ENST00000557364.6:c.1942C>A	ENSP00000451601.1:p.Leu648Ile
ENST00000642914.1:n.925C>A
ENST00000643469.1:c.1942C>A	ENSP00000495070.1:p.Leu648Ile
ENST00000645140.1:c.1854C>A
ENST00000645206.1:n.456C>A
ENST00000645929.1:c.1105C>A	ENSP00000494402.1:p.Leu369Ile
ENST00000646340.1:c.1948C>A	ENSP00000496730.1:p.Leu650Ile
ENST00000646647.2:c.1942C>A MANE Select	ENSP00000495240.1:p.Leu648Ile
ENST00000399982.6:c.1942C>A	ENSP00000382863.2:p.Leu648Ile
ENST00000430710.7:c.1105C>A	ENSP00000406288.3:p.Leu369Ile
ENST00000555962.5:n.151-12558C>A
ENST00000557364.5:c.1942C>A	ENSP00000451601.1:p.Leu648Ile
NM_001170629.1:c.1942C>A	NP_001164100.1:p.Leu648Ile
NM_020920.3:c.1105C>A	NP_065971.2:p.Leu369Ile
NM_001170629.2:c.1942C>A MANE Select	NP_001164100.1:p.Leu648Ile
NM_020920.4:c.1105C>A	NP_065971.2:p.Leu369Ile