Canonical Allele Identifier: CA388893594

Gene: CHD8

Linked Data

• gnomAD v4: 14-21400474-G-T
• MyVariant Identifiers: chr14:g.21868633G>T (hg19) ; chr14:g.21400474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400474G>T , CM000676.2:g.21400474G>T	GRCh38
NC_000014.8:g.21868633G>T , CM000676.1:g.21868633G>T	GRCh37
NC_000014.7:g.20938473G>T	NCBI36
NG_021249.1:g.41825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3672C>A	ENSP00000406288.3:p.Phe1224Leu
ENST00000555935.2:c.2185C>A
ENST00000555962.6:c.265-167C>A	ENSP00000495174.1:n.265-167C>A
ENST00000557364.6:c.4509C>A	ENSP00000451601.1:p.Phe1503Leu
ENST00000643469.1:c.4509C>A	ENSP00000495070.1:p.Phe1503Leu
ENST00000645206.1:n.3023C>A
ENST00000645929.1:c.3672C>A	ENSP00000494402.1:p.Phe1224Leu
ENST00000646340.1:c.4515C>A	ENSP00000496730.1:p.Phe1505Leu
ENST00000646558.1:n.1325C>A
ENST00000646647.2:c.4509C>A MANE Select	ENSP00000495240.1:p.Phe1503Leu
ENST00000399982.6:c.4509C>A	ENSP00000382863.2:p.Phe1503Leu
ENST00000430710.7:c.3672C>A	ENSP00000406288.3:p.Phe1224Leu
ENST00000555935.1:c.2185C>A
ENST00000555962.5:n.525-167C>A
ENST00000557364.5:c.4509C>A	ENSP00000451601.1:p.Phe1503Leu
NM_001170629.1:c.4509C>A	NP_001164100.1:p.Phe1503Leu
NM_020920.3:c.3672C>A	NP_065971.2:p.Phe1224Leu
NM_001170629.2:c.4509C>A MANE Select	NP_001164100.1:p.Phe1503Leu
NM_020920.4:c.3672C>A	NP_065971.2:p.Phe1224Leu