Canonical Allele Identifier: CA2687704880

Gene: HEY1

Linked Data

• gnomAD v4: 8-79764208-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764208A>G , CM000670.2:g.79764208A>G	GRCh38
NC_000008.10:g.80676443A>G , CM000670.1:g.80676443A>G	GRCh37
NC_000008.9:g.80838998A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435063.4:n.1706T>C
ENST00000354724.8:c.*980T>C MANE Select	ENSP00000346761.3:n.*980T>C
ENST00000435063.3:n.1695T>C
ENST00000519075.2:n.3503T>C
ENST00000521111.2:n.3207T>C
ENST00000523531.2:n.2145T>C
ENST00000523976.2:c.*980T>C	ENSP00000429792.1:n.*980T>C
ENST00000674160.1:c.*1635T>C	ENSP00000501529.1:n.*1635T>C
ENST00000674177.1:c.*1722T>C	ENSP00000501471.1:n.*1722T>C
ENST00000674295.1:c.*980T>C	ENSP00000501320.1:n.*980T>C
ENST00000674358.1:c.*980T>C	ENSP00000501370.1:n.*980T>C
ENST00000674418.1:c.*980T>C	ENSP00000501342.1:n.*980T>C
ENST00000674439.1:n.2123T>C
ENST00000337919.9:c.*980T>C	ENSP00000338272.5:n.*980T>C
ENST00000354724.7:c.*980T>C	ENSP00000346761.3:n.*980T>C
NM_001040708.1:c.*980T>C	NP_001035798.1:n.*980T>C
NM_001282851.1:c.*980T>C	NP_001269780.1:n.*980T>C
NM_012258.3:c.*980T>C	NP_036390.3:n.*980T>C
NM_012258.4:c.*980T>C MANE Select	NP_036390.3:n.*980T>C
NM_001040708.2:c.*980T>C	NP_001035798.1:n.*980T>C
NM_001282851.2:c.*980T>C	NP_001269780.1:n.*980T>C