Canonical Allele Identifier: CA1796654140
Gene: HEY1 HGNC NCBI

Linked Data

dbSNP Id: rs1807774772
gnomAD v4: 8-79764308-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79764308C>T , CM000670.2:g.79764308C>T GRCh38
NC_000008.10:g.80676543C>T , CM000670.1:g.80676543C>T GRCh37
NC_000008.9:g.80839098C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435063.4:n.1606G>A
ENST00000354724.8:c.*880G>A MANE Select ENSP00000346761.3:n.*880G>A
ENST00000435063.3:n.1595G>A
ENST00000519075.2:n.3403G>A
ENST00000521111.2:n.3107G>A
ENST00000523531.2:n.2045G>A
ENST00000523976.2:c.*880G>A ENSP00000429792.1:n.*880G>A
ENST00000674160.1:c.*1535G>A ENSP00000501529.1:n.*1535G>A
ENST00000674177.1:c.*1622G>A ENSP00000501471.1:n.*1622G>A
ENST00000674295.1:c.*880G>A ENSP00000501320.1:n.*880G>A
ENST00000674358.1:c.*880G>A ENSP00000501370.1:n.*880G>A
ENST00000674418.1:c.*880G>A ENSP00000501342.1:n.*880G>A
ENST00000674439.1:n.2023G>A
ENST00000337919.9:c.*880G>A ENSP00000338272.5:n.*880G>A
ENST00000354724.7:c.*880G>A ENSP00000346761.3:n.*880G>A
NM_001040708.1:c.*880G>A NP_001035798.1:n.*880G>A
NM_001282851.1:c.*880G>A NP_001269780.1:n.*880G>A
NM_012258.3:c.*880G>A NP_036390.3:n.*880G>A
NM_012258.4:c.*880G>A MANE Select NP_036390.3:n.*880G>A
NM_001040708.2:c.*880G>A NP_001035798.1:n.*880G>A
NM_001282851.2:c.*880G>A NP_001269780.1:n.*880G>A