Canonical Allele Identifier: CA12792529

Gene: HEY1

Linked Data

• dbSNP Id: rs1046472
• gnomAD v2: 8-80676529-T-G
• gnomAD v3: 8-79764294-T-G
• gnomAD v4: 8-79764294-T-G
• MyVariant Identifiers: chr8:g.80676529T>G (hg19) ; chr8:g.79764294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764294T>G , CM000670.2:g.79764294T>G	GRCh38
NC_000008.10:g.80676529T>G , CM000670.1:g.80676529T>G	GRCh37
NC_000008.9:g.80839084T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435063.4:n.1620A>C
ENST00000354724.8:c.*894A>C MANE Select	ENSP00000346761.3:n.*894A>C
ENST00000435063.3:n.1609A>C
ENST00000519075.2:n.3417A>C
ENST00000521111.2:n.3121A>C
ENST00000523531.2:n.2059A>C
ENST00000523976.2:c.*894A>C	ENSP00000429792.1:n.*894A>C
ENST00000674160.1:c.*1549A>C	ENSP00000501529.1:n.*1549A>C
ENST00000674177.1:c.*1636A>C	ENSP00000501471.1:n.*1636A>C
ENST00000674295.1:c.*894A>C	ENSP00000501320.1:n.*894A>C
ENST00000674358.1:c.*894A>C	ENSP00000501370.1:n.*894A>C
ENST00000674418.1:c.*894A>C	ENSP00000501342.1:n.*894A>C
ENST00000674439.1:n.2037A>C
ENST00000337919.9:c.*894A>C	ENSP00000338272.5:n.*894A>C
ENST00000354724.7:c.*894A>C	ENSP00000346761.3:n.*894A>C
NM_001040708.1:c.*894A>C	NP_001035798.1:n.*894A>C
NM_001282851.1:c.*894A>C	NP_001269780.1:n.*894A>C
NM_012258.3:c.*894A>C	NP_036390.3:n.*894A>C
NM_012258.4:c.*894A>C MANE Select	NP_036390.3:n.*894A>C
NM_001040708.2:c.*894A>C	NP_001035798.1:n.*894A>C
NM_001282851.2:c.*894A>C	NP_001269780.1:n.*894A>C