Canonical Allele Identifier: CA583229850

Gene: HEY1

Linked Data

• dbSNP Id: rs1452755441
• gnomAD v2: 8-80676554-A-T
• gnomAD v3: 8-79764319-A-T
• gnomAD v4: 8-79764319-A-T
• MyVariant Identifiers: chr8:g.80676554A>T (hg19) ; chr8:g.79764319A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764319A>T , CM000670.2:g.79764319A>T	GRCh38
NC_000008.10:g.80676554A>T , CM000670.1:g.80676554A>T	GRCh37
NC_000008.9:g.80839109A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1595T>A
ENST00000354724.8:c.*869T>A MANE Select	ENSP00000346761.3:n.*869T>A
ENST00000435063.3:n.1584T>A
ENST00000519075.2:n.3392T>A
ENST00000521111.2:n.3096T>A
ENST00000523531.2:n.2034T>A
ENST00000523976.2:c.*869T>A	ENSP00000429792.1:n.*869T>A
ENST00000674160.1:c.*1524T>A	ENSP00000501529.1:n.*1524T>A
ENST00000674177.1:c.*1611T>A	ENSP00000501471.1:n.*1611T>A
ENST00000674295.1:c.*869T>A	ENSP00000501320.1:n.*869T>A
ENST00000674358.1:c.*869T>A	ENSP00000501370.1:n.*869T>A
ENST00000674418.1:c.*869T>A	ENSP00000501342.1:n.*869T>A
ENST00000674439.1:n.2012T>A
ENST00000337919.9:c.*869T>A	ENSP00000338272.5:n.*869T>A
ENST00000354724.7:c.*869T>A	ENSP00000346761.3:n.*869T>A
NM_001040708.1:c.*869T>A	NP_001035798.1:n.*869T>A
NM_001282851.1:c.*869T>A	NP_001269780.1:n.*869T>A
NM_012258.3:c.*869T>A	NP_036390.3:n.*869T>A
NM_012258.4:c.*869T>A MANE Select	NP_036390.3:n.*869T>A
NM_001040708.2:c.*869T>A	NP_001035798.1:n.*869T>A
NM_001282851.2:c.*869T>A	NP_001269780.1:n.*869T>A