Canonical Allele Identifier: CA180550098

Gene: HEY1

Linked Data

• dbSNP Id: rs111559486
• gnomAD v2: 8-80676433-C-T
• gnomAD v3: 8-79764198-C-T
• gnomAD v4: 8-79764198-C-T
• MyVariant Identifiers: chr8:g.80676433C>T (hg19) ; chr8:g.79764198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79764198C>T , CM000670.2:g.79764198C>T	GRCh38
NC_000008.10:g.80676433C>T , CM000670.1:g.80676433C>T	GRCh37
NC_000008.9:g.80838988C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.1716G>A
ENST00000354724.8:c.*990G>A MANE Select	ENSP00000346761.3:n.*990G>A
ENST00000435063.3:n.1705G>A
ENST00000519075.2:n.3513G>A
ENST00000521111.2:n.3217G>A
ENST00000523531.2:n.2155G>A
ENST00000523976.2:c.*990G>A	ENSP00000429792.1:n.*990G>A
ENST00000674160.1:c.*1645G>A	ENSP00000501529.1:n.*1645G>A
ENST00000674177.1:c.*1732G>A	ENSP00000501471.1:n.*1732G>A
ENST00000674295.1:c.*990G>A	ENSP00000501320.1:n.*990G>A
ENST00000674358.1:c.*990G>A	ENSP00000501370.1:n.*990G>A
ENST00000674418.1:c.*990G>A	ENSP00000501342.1:n.*990G>A
ENST00000674439.1:n.2133G>A
ENST00000337919.9:c.*990G>A	ENSP00000338272.5:n.*990G>A
ENST00000354724.7:c.*990G>A	ENSP00000346761.3:n.*990G>A
NM_001040708.1:c.*990G>A	NP_001035798.1:n.*990G>A
NM_001282851.1:c.*990G>A	NP_001269780.1:n.*990G>A
NM_012258.3:c.*990G>A	NP_036390.3:n.*990G>A
NM_012258.4:c.*990G>A MANE Select	NP_036390.3:n.*990G>A
NM_001040708.2:c.*990G>A	NP_001035798.1:n.*990G>A
NM_001282851.2:c.*990G>A	NP_001269780.1:n.*990G>A