Canonical Allele Identifier: CA125861980

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1038445943
• gnomAD v3: 5-119478914-T-A
• gnomAD v4: 5-119478914-T-A
• MyVariant Identifiers: chr5:g.118814609T>A (hg19) ; chr5:g.119478914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478914T>A , CM000667.2:g.119478914T>A	GRCh38
NC_000005.9:g.118814609T>A , CM000667.1:g.118814609T>A	GRCh37
NC_000005.8:g.118842508T>A	NCBI36
NG_008182.1:g.31462T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.515T>A	ENSP00000426272.2:p.Leu172Gln
ENST00000518349.6:c.113-17629T>A	ENSP00000507185.1:n.113-17629T>A
ENST00000682445.1:c.*396T>A	ENSP00000508061.1:n.*396T>A
ENST00000682531.1:n.616T>A
ENST00000682626.1:c.*21T>A	ENSP00000507857.1:n.*21T>A
ENST00000682996.1:c.515T>A	ENSP00000507792.1:p.Leu172Gln
ENST00000683265.1:n.608T>A
ENST00000683371.1:c.*645T>A	ENSP00000508376.1:n.*645T>A
ENST00000683390.1:n.2205T>A
ENST00000683549.1:n.436T>A
ENST00000683936.1:c.*400T>A	ENSP00000507721.1:n.*400T>A
ENST00000683974.1:n.597T>A
ENST00000683996.1:c.104T>A	ENSP00000507060.1:p.Leu35Gln
ENST00000684131.1:n.354T>A
ENST00000684160.1:c.*205T>A	ENSP00000507821.1:n.*205T>A
ENST00000684214.1:c.515T>A	ENSP00000508071.1:p.Leu172Gln
ENST00000414835.7:c.590T>A	ENSP00000411960.3:p.Leu197Gln
ENST00000510025.7:c.515T>A MANE Select	ENSP00000424940.3:p.Leu172Gln
ENST00000643250.1:c.*387T>A	ENSP00000494737.1:n.*387T>A
ENST00000644146.1:c.*93T>A	ENSP00000494808.1:n.*93T>A
ENST00000645099.1:c.74T>A	ENSP00000496091.1:p.Leu25Gln
ENST00000645702.1:c.104T>A	ENSP00000496432.1:p.Leu35Gln
ENST00000645832.1:c.*400T>A	ENSP00000494316.1:n.*400T>A
ENST00000646058.1:c.515T>A	ENSP00000493579.1:p.Leu172Gln
ENST00000646355.1:c.*521T>A	ENSP00000493801.1:n.*521T>A
ENST00000646554.1:c.*493T>A	ENSP00000494542.1:n.*493T>A
ENST00000647335.1:c.*482T>A	ENSP00000495180.1:n.*482T>A
ENST00000647342.1:c.*446T>A	ENSP00000494992.1:n.*446T>A
ENST00000256216.10:c.515T>A	ENSP00000256216.6:p.Leu172Gln
ENST00000414835.6:c.95T>A	ENSP00000411960.2:p.Leu32Gln
ENST00000442060.7:c.515T>A	ENSP00000390208.3:p.Leu172Gln
ENST00000503168.5:n.504T>A
ENST00000504811.5:c.590T>A	ENSP00000420914.1:p.Leu197Gln
ENST00000505181.5:n.218T>A
ENST00000508788.5:n.417T>A
ENST00000509514.5:c.-370T>A	ENSP00000426272.1:n.-370T>A
ENST00000510025.5:c.443T>A	ENSP00000424940.1:p.Leu148Gln
ENST00000512644.1:n.83T>A
ENST00000512841.5:n.563T>A
ENST00000513628.5:c.104T>A	ENSP00000425993.1:p.Leu35Gln
ENST00000515235.6:n.575T>A
ENST00000515320.5:c.461T>A	ENSP00000424613.1:p.Leu154Gln
NM_000414.3:c.515T>A	NP_000405.1:p.Leu172Gln
NM_001199291.2:c.590T>A	NP_001186220.1:p.Leu197Gln
NM_001199292.1:c.461T>A	NP_001186221.1:p.Leu154Gln
NM_001292027.1:c.443T>A	NP_001278956.1:p.Leu148Gln
NM_001292028.1:c.95T>A	NP_001278957.1:p.Leu32Gln
NM_000414.4:c.515T>A MANE Select	NP_000405.1:p.Leu172Gln
NM_001199291.3:c.590T>A	NP_001186220.1:p.Leu197Gln
NM_001199292.2:c.461T>A	NP_001186221.1:p.Leu154Gln
NM_001292027.2:c.443T>A	NP_001278956.1:p.Leu148Gln
NM_001292028.2:c.95T>A	NP_001278957.1:p.Leu32Gln
NM_001374497.1:c.506T>A	NP_001361426.1:p.Leu169Gln
NM_001374498.1:c.515T>A	NP_001361427.1:p.Leu172Gln
NM_001374499.1:c.188T>A	NP_001361428.1:p.Leu63Gln
NM_001374500.1:c.74T>A	NP_001361429.1:p.Leu25Gln
NM_001374501.1:c.104T>A	NP_001361430.1:p.Leu35Gln
NM_001374502.1:c.104T>A	NP_001361431.1:p.Leu35Gln
NM_001374503.1:c.104T>A	NP_001361432.1:p.Leu35Gln
NR_164653.1:n.594T>A
NR_164654.1:n.782T>A