Canonical Allele Identifier: CA1115748715

Gene: HEY1

Linked Data

• dbSNP Id: rs1807774573
• gnomAD v3: 8-79764300-C-A
• gnomAD v4: 8-79764300-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764300C>A , CM000670.2:g.79764300C>A	GRCh38
NC_000008.10:g.80676535C>A , CM000670.1:g.80676535C>A	GRCh37
NC_000008.9:g.80839090C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1614G>T
ENST00000354724.8:c.*888G>T MANE Select	ENSP00000346761.3:n.*888G>T
ENST00000435063.3:n.1603G>T
ENST00000519075.2:n.3411G>T
ENST00000521111.2:n.3115G>T
ENST00000523531.2:n.2053G>T
ENST00000523976.2:c.*888G>T	ENSP00000429792.1:n.*888G>T
ENST00000674160.1:c.*1543G>T	ENSP00000501529.1:n.*1543G>T
ENST00000674177.1:c.*1630G>T	ENSP00000501471.1:n.*1630G>T
ENST00000674295.1:c.*888G>T	ENSP00000501320.1:n.*888G>T
ENST00000674358.1:c.*888G>T	ENSP00000501370.1:n.*888G>T
ENST00000674418.1:c.*888G>T	ENSP00000501342.1:n.*888G>T
ENST00000674439.1:n.2031G>T
ENST00000337919.9:c.*888G>T	ENSP00000338272.5:n.*888G>T
ENST00000354724.7:c.*888G>T	ENSP00000346761.3:n.*888G>T
NM_001040708.1:c.*888G>T	NP_001035798.1:n.*888G>T
NM_001282851.1:c.*888G>T	NP_001269780.1:n.*888G>T
NM_012258.3:c.*888G>T	NP_036390.3:n.*888G>T
NM_012258.4:c.*888G>T MANE Select	NP_036390.3:n.*888G>T
NM_001040708.2:c.*888G>T	NP_001035798.1:n.*888G>T
NM_001282851.2:c.*888G>T	NP_001269780.1:n.*888G>T