Canonical Allele Identifier: CA360866121

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1332792
• ClinVar RCV Id: RCV001806366
• dbSNP Id: rs2126702600
• gnomAD v4: 5-119478865-T-C
• MyVariant Identifiers: chr5:g.118814560T>C (hg19) ; chr5:g.119478865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478865T>C , CM000667.2:g.119478865T>C	GRCh38
NC_000005.9:g.118814560T>C , CM000667.1:g.118814560T>C	GRCh37
NC_000005.8:g.118842459T>C	NCBI36
NG_008182.1:g.31413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.466T>C	ENSP00000426272.2:p.Tyr156His
ENST00000518349.6:c.113-17678T>C	ENSP00000507185.1:n.113-17678T>C
ENST00000682445.1:c.*347T>C	ENSP00000508061.1:n.*347T>C
ENST00000682531.1:n.567T>C
ENST00000682626.1:c.494T>C	ENSP00000507857.1:p.Ile165Thr
ENST00000682996.1:c.466T>C	ENSP00000507792.1:p.Tyr156His
ENST00000683265.1:n.559T>C
ENST00000683371.1:c.*596T>C	ENSP00000508376.1:n.*596T>C
ENST00000683390.1:n.2156T>C
ENST00000683549.1:n.387T>C
ENST00000683936.1:c.*351T>C	ENSP00000507721.1:n.*351T>C
ENST00000683974.1:n.548T>C
ENST00000683996.1:c.55T>C	ENSP00000507060.1:p.Tyr19His
ENST00000684131.1:n.305T>C
ENST00000684160.1:c.*156T>C	ENSP00000507821.1:n.*156T>C
ENST00000684214.1:c.466T>C	ENSP00000508071.1:p.Tyr156His
ENST00000414835.7:c.541T>C	ENSP00000411960.3:p.Tyr181His
ENST00000510025.7:c.466T>C MANE Select	ENSP00000424940.3:p.Tyr156His
ENST00000643250.1:c.*338T>C	ENSP00000494737.1:n.*338T>C
ENST00000644146.1:c.*44T>C	ENSP00000494808.1:n.*44T>C
ENST00000645099.1:c.25T>C	ENSP00000496091.1:p.Tyr9His
ENST00000645702.1:c.55T>C	ENSP00000496432.1:p.Tyr19His
ENST00000645832.1:c.*351T>C	ENSP00000494316.1:n.*351T>C
ENST00000646058.1:c.466T>C	ENSP00000493579.1:p.Tyr156His
ENST00000646355.1:c.*472T>C	ENSP00000493801.1:n.*472T>C
ENST00000646554.1:c.*444T>C	ENSP00000494542.1:n.*444T>C
ENST00000646590.1:c.457T>C	ENSP00000494892.1:p.Tyr153His
ENST00000647335.1:c.*433T>C	ENSP00000495180.1:n.*433T>C
ENST00000647342.1:c.*397T>C	ENSP00000494992.1:n.*397T>C
ENST00000256216.10:c.466T>C	ENSP00000256216.6:p.Tyr156His
ENST00000414835.6:c.46T>C	ENSP00000411960.2:p.Tyr16His
ENST00000442060.7:c.466T>C	ENSP00000390208.3:p.Tyr156His
ENST00000503168.5:n.455T>C
ENST00000504811.5:c.541T>C	ENSP00000420914.1:p.Tyr181His
ENST00000505181.5:n.169T>C
ENST00000508788.5:n.368T>C
ENST00000509514.5:c.-419T>C	ENSP00000426272.1:n.-419T>C
ENST00000510025.5:c.394T>C	ENSP00000424940.1:p.Tyr132His
ENST00000512644.1:n.34T>C
ENST00000512841.5:n.514T>C
ENST00000513628.5:c.55T>C	ENSP00000425993.1:p.Tyr19His
ENST00000515235.6:n.526T>C
ENST00000515320.5:c.412T>C	ENSP00000424613.1:p.Tyr138His
NM_000414.3:c.466T>C	NP_000405.1:p.Tyr156His
NM_001199291.2:c.541T>C	NP_001186220.1:p.Tyr181His
NM_001199292.1:c.412T>C	NP_001186221.1:p.Tyr138His
NM_001292027.1:c.394T>C	NP_001278956.1:p.Tyr132His
NM_001292028.1:c.46T>C	NP_001278957.1:p.Tyr16His
NM_000414.4:c.466T>C MANE Select	NP_000405.1:p.Tyr156His
NM_001199291.3:c.541T>C	NP_001186220.1:p.Tyr181His
NM_001199292.2:c.412T>C	NP_001186221.1:p.Tyr138His
NM_001292027.2:c.394T>C	NP_001278956.1:p.Tyr132His
NM_001292028.2:c.46T>C	NP_001278957.1:p.Tyr16His
NM_001374497.1:c.457T>C	NP_001361426.1:p.Tyr153His
NM_001374498.1:c.466T>C	NP_001361427.1:p.Tyr156His
NM_001374499.1:c.139T>C	NP_001361428.1:p.Tyr47His
NM_001374500.1:c.25T>C	NP_001361429.1:p.Tyr9His
NM_001374501.1:c.55T>C	NP_001361430.1:p.Tyr19His
NM_001374502.1:c.55T>C	NP_001361431.1:p.Tyr19His
NM_001374503.1:c.55T>C	NP_001361432.1:p.Tyr19His
NR_164653.1:n.545T>C
NR_164654.1:n.733T>C