Canonical Allele Identifier: CA236235
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 191198
dbSNP Id: rs786205574

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119477434C>G , CM000667.2:g.119477434C>G GRCh38
NC_000005.9:g.118813129C>G , CM000667.1:g.118813129C>G GRCh37
NC_000005.8:g.118841028C>G NCBI36
NG_008182.1:g.29982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.367C>G ENSP00000426272.2:p.His123Asp
ENST00000518349.6:c.113-19109C>G ENSP00000507185.1:n.113-19109C>G
ENST00000682445.1:c.*248C>G ENSP00000508061.1:n.*248C>G
ENST00000682531.1:n.468C>G
ENST00000682626.1:c.395C>G ENSP00000507857.1:p.Ser132Ter
ENST00000682996.1:c.367C>G ENSP00000507792.1:p.His123Asp
ENST00000683265.1:n.460C>G
ENST00000683371.1:c.*497C>G ENSP00000508376.1:n.*497C>G
ENST00000683390.1:n.2057C>G
ENST00000683549.1:n.191C>G
ENST00000683936.1:c.*252C>G ENSP00000507721.1:n.*252C>G
ENST00000683974.1:n.449C>G
ENST00000683996.1:c.-45C>G ENSP00000507060.1:n.-45C>G
ENST00000684131.1:n.206C>G
ENST00000684160.1:c.*57C>G ENSP00000507821.1:n.*57C>G
ENST00000684214.1:c.367C>G ENSP00000508071.1:p.His123Asp
ENST00000414835.7:c.442C>G ENSP00000411960.3:p.His148Asp
ENST00000510025.7:c.367C>G MANE Select ENSP00000424940.3:p.His123Asp
ENST00000643250.1:c.*248C>G ENSP00000494737.1:n.*248C>G
ENST00000644146.1:c.367C>G ENSP00000494808.1:p.His123Asp
ENST00000645099.1:c.-123C>G ENSP00000496091.1:n.-123C>G
ENST00000645702.1:c.-45C>G ENSP00000496432.1:n.-45C>G
ENST00000645832.1:c.*252C>G ENSP00000494316.1:n.*252C>G
ENST00000646058.1:c.367C>G ENSP00000493579.1:p.His123Asp
ENST00000646355.1:c.*373C>G ENSP00000493801.1:n.*373C>G
ENST00000646554.1:c.*248C>G ENSP00000494542.1:n.*248C>G
ENST00000646590.1:c.367C>G ENSP00000494892.1:p.His123Asp
ENST00000647335.1:c.*334C>G ENSP00000495180.1:n.*334C>G
ENST00000647342.1:c.*298C>G ENSP00000494992.1:n.*298C>G
ENST00000256216.10:c.367C>G ENSP00000256216.6:p.His123Asp
ENST00000414835.6:c.-45C>G ENSP00000411960.2:n.-45C>G
ENST00000442060.7:c.367C>G ENSP00000390208.3:p.His123Asp
ENST00000503168.5:n.356C>G
ENST00000504811.5:c.442C>G ENSP00000420914.1:p.His148Asp
ENST00000505181.5:n.70C>G
ENST00000508788.5:n.172C>G
ENST00000509514.5:c.-518C>G ENSP00000426272.1:n.-518C>G
ENST00000510025.5:c.295C>G ENSP00000424940.1:p.His99Asp
ENST00000511186.5:n.498C>G
ENST00000512841.5:n.415C>G
ENST00000513628.5:c.-45C>G ENSP00000425993.1:n.-45C>G
ENST00000515235.6:n.427C>G
ENST00000515320.5:c.313C>G ENSP00000424613.1:p.His105Asp
NM_000414.3:c.367C>G NP_000405.1:p.His123Asp
NM_001199291.2:c.442C>G NP_001186220.1:p.His148Asp
NM_001199292.1:c.313C>G NP_001186221.1:p.His105Asp
NM_001292027.1:c.295C>G NP_001278956.1:p.His99Asp
NM_001292028.1:c.-45C>G NP_001278957.1:n.-45C>G
NM_000414.4:c.367C>G MANE Select NP_000405.1:p.His123Asp
NM_001199291.3:c.442C>G NP_001186220.1:p.His148Asp
NM_001199292.2:c.313C>G NP_001186221.1:p.His105Asp
NM_001292027.2:c.295C>G NP_001278956.1:p.His99Asp
NM_001292028.2:c.-45C>G NP_001278957.1:n.-45C>G
NM_001374497.1:c.367C>G NP_001361426.1:p.His123Asp
NM_001374498.1:c.367C>G NP_001361427.1:p.His123Asp
NM_001374499.1:c.40C>G NP_001361428.1:p.His14Asp
NM_001374500.1:c.-172C>G NP_001361429.1:n.-172C>G
NM_001374501.1:c.-45C>G NP_001361430.1:n.-45C>G
NM_001374502.1:c.-45C>G NP_001361431.1:n.-45C>G
NM_001374503.1:c.-45C>G NP_001361432.1:n.-45C>G
NR_164653.1:n.446C>G
NR_164654.1:n.634C>G