Canonical Allele Identifier: CA1577038570

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1752480561
• gnomAD v4: 5-119514954-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514954A>G , CM000667.2:g.119514954A>G	GRCh38
NC_000005.9:g.118850649A>G , CM000667.1:g.118850649A>G	GRCh37
NC_000005.8:g.118878548A>G	NCBI36
NG_008182.1:g.67502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1369-27A>G	ENSP00000426272.2:n.1369-27A>G
ENST00000518349.6:c.682-27A>G	ENSP00000507185.1:n.682-27A>G
ENST00000520244.6:n.3149A>G
ENST00000682445.1:c.*1319-27A>G	ENSP00000508061.1:n.*1319-27A>G
ENST00000682531.1:n.3330-27A>G
ENST00000682626.1:c.*944-27A>G	ENSP00000507857.1:n.*944-27A>G
ENST00000682996.1:c.1366-27A>G	ENSP00000507792.1:n.1366-27A>G
ENST00000683265.1:n.3224-27A>G
ENST00000683335.1:n.2813A>G
ENST00000683371.1:c.*1568-27A>G	ENSP00000508376.1:n.*1568-27A>G
ENST00000683372.1:n.3448-27A>G
ENST00000683390.1:n.3128-27A>G
ENST00000683549.1:n.3052-27A>G
ENST00000683936.1:c.*3016-27A>G	ENSP00000507721.1:n.*3016-27A>G
ENST00000683974.1:n.3213-73A>G
ENST00000683996.1:c.*648-27A>G	ENSP00000507060.1:n.*648-27A>G
ENST00000684131.1:n.2970-27A>G
ENST00000684160.1:c.*1128-27A>G	ENSP00000507821.1:n.*1128-27A>G
ENST00000684214.1:c.1438-27A>G	ENSP00000508071.1:n.1438-27A>G
ENST00000414835.7:c.1513-27A>G	ENSP00000411960.3:n.1513-27A>G
ENST00000510025.7:c.1438-27A>G MANE Select	ENSP00000424940.3:n.1438-27A>G
ENST00000643250.1:c.*1310-27A>G	ENSP00000494737.1:n.*1310-27A>G
ENST00000644146.1:c.*2709-27A>G	ENSP00000494808.1:n.*2709-27A>G
ENST00000645099.1:c.997-27A>G	ENSP00000496091.1:n.997-27A>G
ENST00000645702.1:c.*841-27A>G	ENSP00000496432.1:n.*841-27A>G
ENST00000645832.1:c.*1323-27A>G	ENSP00000494316.1:n.*1323-27A>G
ENST00000646058.1:c.1438-27A>G	ENSP00000493579.1:n.1438-27A>G
ENST00000646355.1:c.*1444-27A>G	ENSP00000493801.1:n.*1444-27A>G
ENST00000646554.1:c.*1416-27A>G	ENSP00000494542.1:n.*1416-27A>G
ENST00000647335.1:c.*1405-27A>G	ENSP00000495180.1:n.*1405-27A>G
ENST00000647342.1:c.*1369-27A>G	ENSP00000494992.1:n.*1369-27A>G
ENST00000256216.10:c.1438-27A>G	ENSP00000256216.6:n.1438-27A>G
ENST00000414835.6:c.1018-27A>G	ENSP00000411960.2:n.1018-27A>G
ENST00000442060.7:c.1503-27A>G	ENSP00000390208.3:n.1503-27A>G
ENST00000504811.5:c.1513-27A>G	ENSP00000420914.1:n.1513-27A>G
ENST00000509514.5:c.652-27A>G	ENSP00000426272.1:n.652-27A>G
ENST00000510025.5:c.1366-27A>G	ENSP00000424940.1:n.1366-27A>G
ENST00000513628.5:c.1027-27A>G	ENSP00000425993.1:n.1027-27A>G
ENST00000515235.6:n.3191-27A>G
ENST00000515320.5:c.1384-27A>G	ENSP00000424613.1:n.1384-27A>G
ENST00000518349.5:n.572-27A>G
ENST00000520244.5:n.221-27A>G
ENST00000522415.5:n.105-27A>G
NM_000414.3:c.1438-27A>G	NP_000405.1:n.1438-27A>G
NM_001199291.2:c.1513-27A>G	NP_001186220.1:n.1513-27A>G
NM_001199292.1:c.1384-27A>G	NP_001186221.1:n.1384-27A>G
NM_001292027.1:c.1366-27A>G	NP_001278956.1:n.1366-27A>G
NM_001292028.1:c.1018-27A>G	NP_001278957.1:n.1018-27A>G
NM_000414.4:c.1438-27A>G MANE Select	NP_000405.1:n.1438-27A>G
NM_001199291.3:c.1513-27A>G	NP_001186220.1:n.1513-27A>G
NM_001199292.2:c.1384-27A>G	NP_001186221.1:n.1384-27A>G
NM_001292027.2:c.1366-27A>G	NP_001278956.1:n.1366-27A>G
NM_001292028.2:c.1018-27A>G	NP_001278957.1:n.1018-27A>G
NM_001374497.1:c.1429-27A>G	NP_001361426.1:n.1429-27A>G
NM_001374498.1:c.1366-27A>G	NP_001361427.1:n.1366-27A>G
NM_001374499.1:c.1111-27A>G	NP_001361428.1:n.1111-27A>G
NM_001374500.1:c.997-27A>G	NP_001361429.1:n.997-27A>G
NM_001374501.1:c.1027-27A>G	NP_001361430.1:n.1027-27A>G
NM_001374502.1:c.1027-27A>G	NP_001361431.1:n.1027-27A>G
NM_001374503.1:c.1027-27A>G	NP_001361432.1:n.1027-27A>G
NR_164653.1:n.1535-27A>G
NR_164654.1:n.1803-27A>G