Canonical Allele Identifier: CA180550103

Gene: HEY1

Linked Data

• dbSNP Id: rs969289775
• gnomAD v2: 8-80676470-A-C
• gnomAD v3: 8-79764235-A-C
• gnomAD v4: 8-79764235-A-C
• MyVariant Identifiers: chr8:g.80676470A>C (hg19) ; chr8:g.79764235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764235A>C , CM000670.2:g.79764235A>C	GRCh38
NC_000008.10:g.80676470A>C , CM000670.1:g.80676470A>C	GRCh37
NC_000008.9:g.80839025A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1679T>G
ENST00000354724.8:c.*953T>G MANE Select	ENSP00000346761.3:n.*953T>G
ENST00000435063.3:n.1668T>G
ENST00000519075.2:n.3476T>G
ENST00000521111.2:n.3180T>G
ENST00000523531.2:n.2118T>G
ENST00000523976.2:c.*953T>G	ENSP00000429792.1:n.*953T>G
ENST00000674160.1:c.*1608T>G	ENSP00000501529.1:n.*1608T>G
ENST00000674177.1:c.*1695T>G	ENSP00000501471.1:n.*1695T>G
ENST00000674295.1:c.*953T>G	ENSP00000501320.1:n.*953T>G
ENST00000674358.1:c.*953T>G	ENSP00000501370.1:n.*953T>G
ENST00000674418.1:c.*953T>G	ENSP00000501342.1:n.*953T>G
ENST00000674439.1:n.2096T>G
ENST00000337919.9:c.*953T>G	ENSP00000338272.5:n.*953T>G
ENST00000354724.7:c.*953T>G	ENSP00000346761.3:n.*953T>G
NM_001040708.1:c.*953T>G	NP_001035798.1:n.*953T>G
NM_001282851.1:c.*953T>G	NP_001269780.1:n.*953T>G
NM_012258.3:c.*953T>G	NP_036390.3:n.*953T>G
NM_012258.4:c.*953T>G MANE Select	NP_036390.3:n.*953T>G
NM_001040708.2:c.*953T>G	NP_001035798.1:n.*953T>G
NM_001282851.2:c.*953T>G	NP_001269780.1:n.*953T>G