Canonical Allele Identifier: CA2687704878

Gene: HEY1

Linked Data

• gnomAD v4: 8-79764207-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764207C>A , CM000670.2:g.79764207C>A	GRCh38
NC_000008.10:g.80676442C>A , CM000670.1:g.80676442C>A	GRCh37
NC_000008.9:g.80838997C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435063.4:n.1707G>T
ENST00000354724.8:c.*981G>T MANE Select	ENSP00000346761.3:n.*981G>T
ENST00000435063.3:n.1696G>T
ENST00000519075.2:n.3504G>T
ENST00000521111.2:n.3208G>T
ENST00000523531.2:n.2146G>T
ENST00000523976.2:c.*981G>T	ENSP00000429792.1:n.*981G>T
ENST00000674160.1:c.*1636G>T	ENSP00000501529.1:n.*1636G>T
ENST00000674177.1:c.*1723G>T	ENSP00000501471.1:n.*1723G>T
ENST00000674295.1:c.*981G>T	ENSP00000501320.1:n.*981G>T
ENST00000674358.1:c.*981G>T	ENSP00000501370.1:n.*981G>T
ENST00000674418.1:c.*981G>T	ENSP00000501342.1:n.*981G>T
ENST00000674439.1:n.2124G>T
ENST00000337919.9:c.*981G>T	ENSP00000338272.5:n.*981G>T
ENST00000354724.7:c.*981G>T	ENSP00000346761.3:n.*981G>T
NM_001040708.1:c.*981G>T	NP_001035798.1:n.*981G>T
NM_001282851.1:c.*981G>T	NP_001269780.1:n.*981G>T
NM_012258.3:c.*981G>T	NP_036390.3:n.*981G>T
NM_012258.4:c.*981G>T MANE Select	NP_036390.3:n.*981G>T
NM_001040708.2:c.*981G>T	NP_001035798.1:n.*981G>T
NM_001282851.2:c.*981G>T	NP_001269780.1:n.*981G>T