Canonical Allele Identifier: CA360866385

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2937767
• ClinVar RCV Id: RCV003794397
• dbSNP Id: rs550705310
• gnomAD v3: 5-119478986-C-A
• gnomAD v4: 5-119478986-C-A
• MyVariant Identifiers: chr5:g.118814681C>A (hg19) ; chr5:g.119478986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478986C>A , CM000667.2:g.119478986C>A	GRCh38
NC_000005.9:g.118814681C>A , CM000667.1:g.118814681C>A	GRCh37
NC_000005.8:g.118842580C>A	NCBI36
NG_008182.1:g.31534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.587C>A	ENSP00000426272.2:p.Ala196Glu
ENST00000518349.6:c.113-17557C>A	ENSP00000507185.1:n.113-17557C>A
ENST00000682445.1:c.*468C>A	ENSP00000508061.1:n.*468C>A
ENST00000682531.1:n.688C>A
ENST00000682626.1:c.*93C>A	ENSP00000507857.1:n.*93C>A
ENST00000682996.1:c.587C>A	ENSP00000507792.1:p.Ala196Glu
ENST00000683265.1:n.680C>A
ENST00000683371.1:c.*717C>A	ENSP00000508376.1:n.*717C>A
ENST00000683390.1:n.2277C>A
ENST00000683549.1:n.508C>A
ENST00000683936.1:c.*472C>A	ENSP00000507721.1:n.*472C>A
ENST00000683974.1:n.669C>A
ENST00000683996.1:c.176C>A	ENSP00000507060.1:p.Ala59Glu
ENST00000684131.1:n.426C>A
ENST00000684160.1:c.*277C>A	ENSP00000507821.1:n.*277C>A
ENST00000684214.1:c.587C>A	ENSP00000508071.1:p.Ala196Glu
ENST00000414835.7:c.662C>A	ENSP00000411960.3:p.Ala221Glu
ENST00000510025.7:c.587C>A MANE Select	ENSP00000424940.3:p.Ala196Glu
ENST00000643250.1:c.*459C>A	ENSP00000494737.1:n.*459C>A
ENST00000644146.1:c.*165C>A	ENSP00000494808.1:n.*165C>A
ENST00000645099.1:c.146C>A	ENSP00000496091.1:p.Ala49Glu
ENST00000645702.1:c.176C>A	ENSP00000496432.1:p.Ala59Glu
ENST00000645832.1:c.*472C>A	ENSP00000494316.1:n.*472C>A
ENST00000646058.1:c.587C>A	ENSP00000493579.1:p.Ala196Glu
ENST00000646355.1:c.*593C>A	ENSP00000493801.1:n.*593C>A
ENST00000646554.1:c.*565C>A	ENSP00000494542.1:n.*565C>A
ENST00000647335.1:c.*554C>A	ENSP00000495180.1:n.*554C>A
ENST00000647342.1:c.*518C>A	ENSP00000494992.1:n.*518C>A
ENST00000256216.10:c.587C>A	ENSP00000256216.6:p.Ala196Glu
ENST00000414835.6:c.167C>A	ENSP00000411960.2:p.Ala56Glu
ENST00000442060.7:c.587C>A	ENSP00000390208.3:p.Ala196Glu
ENST00000503168.5:n.576C>A
ENST00000504811.5:c.662C>A	ENSP00000420914.1:p.Ala221Glu
ENST00000505181.5:n.290C>A
ENST00000509514.5:c.-298C>A	ENSP00000426272.1:n.-298C>A
ENST00000510025.5:c.515C>A	ENSP00000424940.1:p.Ala172Glu
ENST00000512644.1:n.155C>A
ENST00000513628.5:c.176C>A	ENSP00000425993.1:p.Ala59Glu
ENST00000515235.6:n.647C>A
ENST00000515320.5:c.533C>A	ENSP00000424613.1:p.Ala178Glu
NM_000414.3:c.587C>A	NP_000405.1:p.Ala196Glu
NM_001199291.2:c.662C>A	NP_001186220.1:p.Ala221Glu
NM_001199292.1:c.533C>A	NP_001186221.1:p.Ala178Glu
NM_001292027.1:c.515C>A	NP_001278956.1:p.Ala172Glu
NM_001292028.1:c.167C>A	NP_001278957.1:p.Ala56Glu
NM_000414.4:c.587C>A MANE Select	NP_000405.1:p.Ala196Glu
NM_001199291.3:c.662C>A	NP_001186220.1:p.Ala221Glu
NM_001199292.2:c.533C>A	NP_001186221.1:p.Ala178Glu
NM_001292027.2:c.515C>A	NP_001278956.1:p.Ala172Glu
NM_001292028.2:c.167C>A	NP_001278957.1:p.Ala56Glu
NM_001374497.1:c.578C>A	NP_001361426.1:p.Ala193Glu
NM_001374498.1:c.587C>A	NP_001361427.1:p.Ala196Glu
NM_001374499.1:c.260C>A	NP_001361428.1:p.Ala87Glu
NM_001374500.1:c.146C>A	NP_001361429.1:p.Ala49Glu
NM_001374501.1:c.176C>A	NP_001361430.1:p.Ala59Glu
NM_001374502.1:c.176C>A	NP_001361431.1:p.Ala59Glu
NM_001374503.1:c.176C>A	NP_001361432.1:p.Ala59Glu
NR_164653.1:n.666C>A
NR_164654.1:n.854C>A