Canonical Allele Identifier: CA360866180

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1713648
• ClinVar RCV Id: RCV002304279
• dbSNP Id: rs1258550930
• gnomAD v4: 5-119478890-A-G
• MyVariant Identifiers: chr5:g.118814585A>G (hg19) ; chr5:g.119478890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478890A>G , CM000667.2:g.119478890A>G	GRCh38
NC_000005.9:g.118814585A>G , CM000667.1:g.118814585A>G	GRCh37
NC_000005.8:g.118842484A>G	NCBI36
NG_008182.1:g.31438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.491A>G	ENSP00000426272.2:p.Tyr164Cys
ENST00000518349.6:c.113-17653A>G	ENSP00000507185.1:n.113-17653A>G
ENST00000682445.1:c.*372A>G	ENSP00000508061.1:n.*372A>G
ENST00000682531.1:n.592A>G
ENST00000682626.1:c.519A>G	ENSP00000507857.1:p.Leu173=
ENST00000682996.1:c.491A>G	ENSP00000507792.1:p.Tyr164Cys
ENST00000683265.1:n.584A>G
ENST00000683371.1:c.*621A>G	ENSP00000508376.1:n.*621A>G
ENST00000683390.1:n.2181A>G
ENST00000683549.1:n.412A>G
ENST00000683936.1:c.*376A>G	ENSP00000507721.1:n.*376A>G
ENST00000683974.1:n.573A>G
ENST00000683996.1:c.80A>G	ENSP00000507060.1:p.Tyr27Cys
ENST00000684131.1:n.330A>G
ENST00000684160.1:c.*181A>G	ENSP00000507821.1:n.*181A>G
ENST00000684214.1:c.491A>G	ENSP00000508071.1:p.Tyr164Cys
ENST00000414835.7:c.566A>G	ENSP00000411960.3:p.Tyr189Cys
ENST00000510025.7:c.491A>G MANE Select	ENSP00000424940.3:p.Tyr164Cys
ENST00000643250.1:c.*363A>G	ENSP00000494737.1:n.*363A>G
ENST00000644146.1:c.*69A>G	ENSP00000494808.1:n.*69A>G
ENST00000645099.1:c.50A>G	ENSP00000496091.1:p.Tyr17Cys
ENST00000645702.1:c.80A>G	ENSP00000496432.1:p.Tyr27Cys
ENST00000645832.1:c.*376A>G	ENSP00000494316.1:n.*376A>G
ENST00000646058.1:c.491A>G	ENSP00000493579.1:p.Tyr164Cys
ENST00000646355.1:c.*497A>G	ENSP00000493801.1:n.*497A>G
ENST00000646554.1:c.*469A>G	ENSP00000494542.1:n.*469A>G
ENST00000646590.1:c.482A>G	ENSP00000494892.1:p.Tyr161Cys
ENST00000647335.1:c.*458A>G	ENSP00000495180.1:n.*458A>G
ENST00000647342.1:c.*422A>G	ENSP00000494992.1:n.*422A>G
ENST00000256216.10:c.491A>G	ENSP00000256216.6:p.Tyr164Cys
ENST00000414835.6:c.71A>G	ENSP00000411960.2:p.Tyr24Cys
ENST00000442060.7:c.491A>G	ENSP00000390208.3:p.Tyr164Cys
ENST00000503168.5:n.480A>G
ENST00000504811.5:c.566A>G	ENSP00000420914.1:p.Tyr189Cys
ENST00000505181.5:n.194A>G
ENST00000508788.5:n.393A>G
ENST00000509514.5:c.-394A>G	ENSP00000426272.1:n.-394A>G
ENST00000510025.5:c.419A>G	ENSP00000424940.1:p.Tyr140Cys
ENST00000512644.1:n.59A>G
ENST00000512841.5:n.539A>G
ENST00000513628.5:c.80A>G	ENSP00000425993.1:p.Tyr27Cys
ENST00000515235.6:n.551A>G
ENST00000515320.5:c.437A>G	ENSP00000424613.1:p.Tyr146Cys
NM_000414.3:c.491A>G	NP_000405.1:p.Tyr164Cys
NM_001199291.2:c.566A>G	NP_001186220.1:p.Tyr189Cys
NM_001199292.1:c.437A>G	NP_001186221.1:p.Tyr146Cys
NM_001292027.1:c.419A>G	NP_001278956.1:p.Tyr140Cys
NM_001292028.1:c.71A>G	NP_001278957.1:p.Tyr24Cys
NM_000414.4:c.491A>G MANE Select	NP_000405.1:p.Tyr164Cys
NM_001199291.3:c.566A>G	NP_001186220.1:p.Tyr189Cys
NM_001199292.2:c.437A>G	NP_001186221.1:p.Tyr146Cys
NM_001292027.2:c.419A>G	NP_001278956.1:p.Tyr140Cys
NM_001292028.2:c.71A>G	NP_001278957.1:p.Tyr24Cys
NM_001374497.1:c.482A>G	NP_001361426.1:p.Tyr161Cys
NM_001374498.1:c.491A>G	NP_001361427.1:p.Tyr164Cys
NM_001374499.1:c.164A>G	NP_001361428.1:p.Tyr55Cys
NM_001374500.1:c.50A>G	NP_001361429.1:p.Tyr17Cys
NM_001374501.1:c.80A>G	NP_001361430.1:p.Tyr27Cys
NM_001374502.1:c.80A>G	NP_001361431.1:p.Tyr27Cys
NM_001374503.1:c.80A>G	NP_001361432.1:p.Tyr27Cys
NR_164653.1:n.570A>G
NR_164654.1:n.758A>G