Canonical Allele Identifier: CA1796654047

Gene: HEY1

Linked Data

• dbSNP Id: rs1807770346

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764194G>A , CM000670.2:g.79764194G>A	GRCh38
NC_000008.10:g.80676429G>A , CM000670.1:g.80676429G>A	GRCh37
NC_000008.9:g.80838984G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1720C>T
ENST00000354724.8:c.*994C>T MANE Select	ENSP00000346761.3:n.*994C>T
ENST00000435063.3:n.1709C>T
ENST00000519075.2:n.3517C>T
ENST00000521111.2:n.3221C>T
ENST00000523531.2:n.2159C>T
ENST00000523976.2:c.*994C>T	ENSP00000429792.1:n.*994C>T
ENST00000674160.1:c.*1649C>T	ENSP00000501529.1:n.*1649C>T
ENST00000674177.1:c.*1736C>T	ENSP00000501471.1:n.*1736C>T
ENST00000674295.1:c.*994C>T	ENSP00000501320.1:n.*994C>T
ENST00000674358.1:c.*994C>T	ENSP00000501370.1:n.*994C>T
ENST00000674418.1:c.*994C>T	ENSP00000501342.1:n.*994C>T
ENST00000674439.1:n.2137C>T
ENST00000337919.9:c.*994C>T	ENSP00000338272.5:n.*994C>T
ENST00000354724.7:c.*994C>T	ENSP00000346761.3:n.*994C>T
NM_001040708.1:c.*994C>T	NP_001035798.1:n.*994C>T
NM_001282851.1:c.*994C>T	NP_001269780.1:n.*994C>T
NM_012258.3:c.*994C>T	NP_036390.3:n.*994C>T
NM_012258.4:c.*994C>T MANE Select	NP_036390.3:n.*994C>T
NM_001040708.2:c.*994C>T	NP_001035798.1:n.*994C>T
NM_001282851.2:c.*994C>T	NP_001269780.1:n.*994C>T