Canonical Allele Identifier: CA360866331
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3107138
ClinVar RCV Id: RCV004404492
dbSNP Id: rs1748858301

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478960T>G , CM000667.2:g.119478960T>G GRCh38
NC_000005.9:g.118814655T>G , CM000667.1:g.118814655T>G GRCh37
NC_000005.8:g.118842554T>G NCBI36
NG_008182.1:g.31508T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.561T>G ENSP00000426272.2:p.Ile187Met
ENST00000518349.6:c.113-17583T>G ENSP00000507185.1:n.113-17583T>G
ENST00000682445.1:c.*442T>G ENSP00000508061.1:n.*442T>G
ENST00000682531.1:n.662T>G
ENST00000682626.1:c.*67T>G ENSP00000507857.1:n.*67T>G
ENST00000682996.1:c.561T>G ENSP00000507792.1:p.Ile187Met
ENST00000683265.1:n.654T>G
ENST00000683371.1:c.*691T>G ENSP00000508376.1:n.*691T>G
ENST00000683390.1:n.2251T>G
ENST00000683549.1:n.482T>G
ENST00000683936.1:c.*446T>G ENSP00000507721.1:n.*446T>G
ENST00000683974.1:n.643T>G
ENST00000683996.1:c.150T>G ENSP00000507060.1:p.Ile50Met
ENST00000684131.1:n.400T>G
ENST00000684160.1:c.*251T>G ENSP00000507821.1:n.*251T>G
ENST00000684214.1:c.561T>G ENSP00000508071.1:p.Ile187Met
ENST00000414835.7:c.636T>G ENSP00000411960.3:p.Ile212Met
ENST00000510025.7:c.561T>G MANE Select ENSP00000424940.3:p.Ile187Met
ENST00000643250.1:c.*433T>G ENSP00000494737.1:n.*433T>G
ENST00000644146.1:c.*139T>G ENSP00000494808.1:n.*139T>G
ENST00000645099.1:c.120T>G ENSP00000496091.1:p.Ile40Met
ENST00000645702.1:c.150T>G ENSP00000496432.1:p.Ile50Met
ENST00000645832.1:c.*446T>G ENSP00000494316.1:n.*446T>G
ENST00000646058.1:c.561T>G ENSP00000493579.1:p.Ile187Met
ENST00000646355.1:c.*567T>G ENSP00000493801.1:n.*567T>G
ENST00000646554.1:c.*539T>G ENSP00000494542.1:n.*539T>G
ENST00000647335.1:c.*528T>G ENSP00000495180.1:n.*528T>G
ENST00000647342.1:c.*492T>G ENSP00000494992.1:n.*492T>G
ENST00000256216.10:c.561T>G ENSP00000256216.6:p.Ile187Met
ENST00000414835.6:c.141T>G ENSP00000411960.2:p.Ile47Met
ENST00000442060.7:c.561T>G ENSP00000390208.3:p.Ile187Met
ENST00000503168.5:n.550T>G
ENST00000504811.5:c.636T>G ENSP00000420914.1:p.Ile212Met
ENST00000505181.5:n.264T>G
ENST00000509514.5:c.-324T>G ENSP00000426272.1:n.-324T>G
ENST00000510025.5:c.489T>G ENSP00000424940.1:p.Ile163Met
ENST00000512644.1:n.129T>G
ENST00000513628.5:c.150T>G ENSP00000425993.1:p.Ile50Met
ENST00000515235.6:n.621T>G
ENST00000515320.5:c.507T>G ENSP00000424613.1:p.Ile169Met
NM_000414.3:c.561T>G NP_000405.1:p.Ile187Met
NM_001199291.2:c.636T>G NP_001186220.1:p.Ile212Met
NM_001199292.1:c.507T>G NP_001186221.1:p.Ile169Met
NM_001292027.1:c.489T>G NP_001278956.1:p.Ile163Met
NM_001292028.1:c.141T>G NP_001278957.1:p.Ile47Met
NM_000414.4:c.561T>G MANE Select NP_000405.1:p.Ile187Met
NM_001199291.3:c.636T>G NP_001186220.1:p.Ile212Met
NM_001199292.2:c.507T>G NP_001186221.1:p.Ile169Met
NM_001292027.2:c.489T>G NP_001278956.1:p.Ile163Met
NM_001292028.2:c.141T>G NP_001278957.1:p.Ile47Met
NM_001374497.1:c.552T>G NP_001361426.1:p.Ile184Met
NM_001374498.1:c.561T>G NP_001361427.1:p.Ile187Met
NM_001374499.1:c.234T>G NP_001361428.1:p.Ile78Met
NM_001374500.1:c.120T>G NP_001361429.1:p.Ile40Met
NM_001374501.1:c.150T>G NP_001361430.1:p.Ile50Met
NM_001374502.1:c.150T>G NP_001361431.1:p.Ile50Met
NM_001374503.1:c.150T>G NP_001361432.1:p.Ile50Met
NR_164653.1:n.640T>G
NR_164654.1:n.828T>G