Canonical Allele Identifier: CA2580072485

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2140091
• ClinVar RCV Id: RCV003073608

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119456312T>G , CM000667.2:g.119456312T>G	GRCh38
NC_000005.9:g.118792007T>G , CM000667.1:g.118792007T>G	GRCh37
NC_000005.8:g.118819906T>G	NCBI36
NG_008182.1:g.8860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.59-3T>G	ENSP00000426272.2:n.59-3T>G
ENST00000512841.6:n.100-3T>G
ENST00000518349.6:c.59-3T>G	ENSP00000507185.1:n.59-3T>G
ENST00000682445.1:c.59-3T>G	ENSP00000508061.1:n.59-3T>G
ENST00000682531.1:n.95-3T>G
ENST00000682626.1:c.69-3T>G	ENSP00000507857.1:n.69-3T>G
ENST00000682996.1:c.59-3T>G	ENSP00000507792.1:n.59-3T>G
ENST00000683265.1:n.87-3T>G
ENST00000683371.1:c.59-3T>G	ENSP00000508376.1:n.59-3T>G
ENST00000683390.1:n.107-3T>G
ENST00000683936.1:c.59-3T>G	ENSP00000507721.1:n.59-3T>G
ENST00000683974.1:n.141-3T>G
ENST00000684160.1:c.69-3T>G	ENSP00000507821.1:n.69-3T>G
ENST00000684214.1:c.59-3T>G	ENSP00000508071.1:n.59-3T>G
ENST00000414835.7:c.69-3T>G	ENSP00000411960.3:n.69-3T>G
ENST00000510025.7:c.59-3T>G MANE Select	ENSP00000424940.3:n.59-3T>G
ENST00000643250.1:c.69-3T>G	ENSP00000494737.1:n.69-3T>G
ENST00000644146.1:c.59-3T>G	ENSP00000494808.1:n.59-3T>G
ENST00000645832.1:c.59-3T>G	ENSP00000494316.1:n.59-3T>G
ENST00000646058.1:c.59-3T>G	ENSP00000493579.1:n.59-3T>G
ENST00000646355.1:c.69-3T>G	ENSP00000493801.1:n.69-3T>G
ENST00000646554.1:c.69-3T>G	ENSP00000494542.1:n.69-3T>G
ENST00000646590.1:c.59-3T>G	ENSP00000494892.1:n.59-3T>G
ENST00000647335.1:c.69-3T>G	ENSP00000495180.1:n.69-3T>G
ENST00000647342.1:c.69-3T>G	ENSP00000494992.1:n.69-3T>G
ENST00000256216.10:c.59-3T>G	ENSP00000256216.6:n.59-3T>G
ENST00000414835.6:c.-353-3T>G	ENSP00000411960.2:n.-353-3T>G
ENST00000442060.7:c.59-3T>G	ENSP00000390208.3:n.59-3T>G
ENST00000503168.5:n.48-3T>G
ENST00000504811.5:c.69-3T>G	ENSP00000420914.1:n.69-3T>G
ENST00000508750.1:n.57-3T>G
ENST00000510025.5:c.-79-3T>G	ENSP00000424940.1:n.-79-3T>G
ENST00000511186.5:n.162-3T>G
ENST00000512841.5:n.107-3T>G
ENST00000515235.6:n.119-3T>G
ENST00000515320.5:c.58+3679T>G	ENSP00000424613.1:n.58+3679T>G
ENST00000519184.5:n.70-3T>G
NM_000414.3:c.59-3T>G	NP_000405.1:n.59-3T>G
NM_001199291.2:c.69-3T>G	NP_001186220.1:n.69-3T>G
NM_001199292.1:c.58+3679T>G	NP_001186221.1:n.58+3679T>G
NM_001292027.1:c.-79-3T>G	NP_001278956.1:n.-79-3T>G
NM_001292028.1:c.-353-3T>G	NP_001278957.1:n.-353-3T>G
NM_000414.4:c.59-3T>G MANE Select	NP_000405.1:n.59-3T>G
NM_001199291.3:c.69-3T>G	NP_001186220.1:n.69-3T>G
NM_001199292.2:c.58+3679T>G	NP_001186221.1:n.58+3679T>G
NM_001292027.2:c.-79-3T>G	NP_001278956.1:n.-79-3T>G
NM_001292028.2:c.-353-3T>G	NP_001278957.1:n.-353-3T>G
NM_001374497.1:c.59-3T>G	NP_001361426.1:n.59-3T>G
NM_001374498.1:c.59-3T>G	NP_001361427.1:n.59-3T>G
NM_001374499.1:c.-287-3T>G	NP_001361428.1:n.-287-3T>G
NM_001374500.1:c.-480-3T>G	NP_001361429.1:n.-480-3T>G
NM_001374501.1:c.-353-3T>G	NP_001361430.1:n.-353-3T>G
NM_001374502.1:c.-358-3T>G	NP_001361431.1:n.-358-3T>G
NM_001374503.1:c.-423-3T>G	NP_001361432.1:n.-423-3T>G
NR_164653.1:n.138-3T>G
NR_164654.1:n.326-3T>G