Canonical Allele Identifier: CA180550104

Gene: HEY1

Linked Data

• dbSNP Id: rs950010373
• gnomAD v4: 8-79764244-T-C
• MyVariant Identifiers: chr8:g.80676479T>C (hg19) ; chr8:g.79764244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764244T>C , CM000670.2:g.79764244T>C	GRCh38
NC_000008.10:g.80676479T>C , CM000670.1:g.80676479T>C	GRCh37
NC_000008.9:g.80839034T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435063.4:n.1670A>G
ENST00000354724.8:c.*944A>G MANE Select	ENSP00000346761.3:n.*944A>G
ENST00000435063.3:n.1659A>G
ENST00000519075.2:n.3467A>G
ENST00000521111.2:n.3171A>G
ENST00000523531.2:n.2109A>G
ENST00000523976.2:c.*944A>G	ENSP00000429792.1:n.*944A>G
ENST00000674160.1:c.*1599A>G	ENSP00000501529.1:n.*1599A>G
ENST00000674177.1:c.*1686A>G	ENSP00000501471.1:n.*1686A>G
ENST00000674295.1:c.*944A>G	ENSP00000501320.1:n.*944A>G
ENST00000674358.1:c.*944A>G	ENSP00000501370.1:n.*944A>G
ENST00000674418.1:c.*944A>G	ENSP00000501342.1:n.*944A>G
ENST00000674439.1:n.2087A>G
ENST00000337919.9:c.*944A>G	ENSP00000338272.5:n.*944A>G
ENST00000354724.7:c.*944A>G	ENSP00000346761.3:n.*944A>G
NM_001040708.1:c.*944A>G	NP_001035798.1:n.*944A>G
NM_001282851.1:c.*944A>G	NP_001269780.1:n.*944A>G
NM_012258.3:c.*944A>G	NP_036390.3:n.*944A>G
NM_012258.4:c.*944A>G MANE Select	NP_036390.3:n.*944A>G
NM_001040708.2:c.*944A>G	NP_001035798.1:n.*944A>G
NM_001282851.2:c.*944A>G	NP_001269780.1:n.*944A>G