Canonical Allele Identifier: CA2687704885

Gene: HEY1

Linked Data

• gnomAD v4: 8-79764223-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764223A>G , CM000670.2:g.79764223A>G	GRCh38
NC_000008.10:g.80676458A>G , CM000670.1:g.80676458A>G	GRCh37
NC_000008.9:g.80839013A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1691T>C
ENST00000354724.8:c.*965T>C MANE Select	ENSP00000346761.3:n.*965T>C
ENST00000435063.3:n.1680T>C
ENST00000519075.2:n.3488T>C
ENST00000521111.2:n.3192T>C
ENST00000523531.2:n.2130T>C
ENST00000523976.2:c.*965T>C	ENSP00000429792.1:n.*965T>C
ENST00000674160.1:c.*1620T>C	ENSP00000501529.1:n.*1620T>C
ENST00000674177.1:c.*1707T>C	ENSP00000501471.1:n.*1707T>C
ENST00000674295.1:c.*965T>C	ENSP00000501320.1:n.*965T>C
ENST00000674358.1:c.*965T>C	ENSP00000501370.1:n.*965T>C
ENST00000674418.1:c.*965T>C	ENSP00000501342.1:n.*965T>C
ENST00000674439.1:n.2108T>C
ENST00000337919.9:c.*965T>C	ENSP00000338272.5:n.*965T>C
ENST00000354724.7:c.*965T>C	ENSP00000346761.3:n.*965T>C
NM_001040708.1:c.*965T>C	NP_001035798.1:n.*965T>C
NM_001282851.1:c.*965T>C	NP_001269780.1:n.*965T>C
NM_012258.3:c.*965T>C	NP_036390.3:n.*965T>C
NM_012258.4:c.*965T>C MANE Select	NP_036390.3:n.*965T>C
NM_001040708.2:c.*965T>C	NP_001035798.1:n.*965T>C
NM_001282851.2:c.*965T>C	NP_001269780.1:n.*965T>C