Canonical Allele Identifier: CA446041487

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478913-C-T
• MyVariant Identifiers: chr5:g.118814608C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478913C>T , CM000667.2:g.119478913C>T	GRCh38
NC_000005.9:g.118814608C>T , CM000667.1:g.118814608C>T	GRCh37
NC_000005.8:g.118842507C>T	NCBI36
NG_008182.1:g.31461C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.514C>T	ENSP00000426272.2:p.Leu172=
ENST00000518349.6:c.113-17630C>T	ENSP00000507185.1:n.113-17630C>T
ENST00000682445.1:c.*395C>T	ENSP00000508061.1:n.*395C>T
ENST00000682531.1:n.615C>T
ENST00000682626.1:c.*20C>T	ENSP00000507857.1:n.*20C>T
ENST00000682996.1:c.514C>T	ENSP00000507792.1:p.Leu172=
ENST00000683265.1:n.607C>T
ENST00000683371.1:c.*644C>T	ENSP00000508376.1:n.*644C>T
ENST00000683390.1:n.2204C>T
ENST00000683549.1:n.435C>T
ENST00000683936.1:c.*399C>T	ENSP00000507721.1:n.*399C>T
ENST00000683974.1:n.596C>T
ENST00000683996.1:c.103C>T	ENSP00000507060.1:p.Leu35=
ENST00000684131.1:n.353C>T
ENST00000684160.1:c.*204C>T	ENSP00000507821.1:n.*204C>T
ENST00000684214.1:c.514C>T	ENSP00000508071.1:p.Leu172=
ENST00000414835.7:c.589C>T	ENSP00000411960.3:p.Leu197=
ENST00000510025.7:c.514C>T MANE Select	ENSP00000424940.3:p.Leu172=
ENST00000643250.1:c.*386C>T	ENSP00000494737.1:n.*386C>T
ENST00000644146.1:c.*92C>T	ENSP00000494808.1:n.*92C>T
ENST00000645099.1:c.73C>T	ENSP00000496091.1:p.Leu25=
ENST00000645702.1:c.103C>T	ENSP00000496432.1:p.Leu35=
ENST00000645832.1:c.*399C>T	ENSP00000494316.1:n.*399C>T
ENST00000646058.1:c.514C>T	ENSP00000493579.1:p.Leu172=
ENST00000646355.1:c.*520C>T	ENSP00000493801.1:n.*520C>T
ENST00000646554.1:c.*492C>T	ENSP00000494542.1:n.*492C>T
ENST00000647335.1:c.*481C>T	ENSP00000495180.1:n.*481C>T
ENST00000647342.1:c.*445C>T	ENSP00000494992.1:n.*445C>T
ENST00000256216.10:c.514C>T	ENSP00000256216.6:p.Leu172=
ENST00000414835.6:c.94C>T	ENSP00000411960.2:p.Leu32=
ENST00000442060.7:c.514C>T	ENSP00000390208.3:p.Leu172=
ENST00000503168.5:n.503C>T
ENST00000504811.5:c.589C>T	ENSP00000420914.1:p.Leu197=
ENST00000505181.5:n.217C>T
ENST00000508788.5:n.416C>T
ENST00000509514.5:c.-371C>T	ENSP00000426272.1:n.-371C>T
ENST00000510025.5:c.442C>T	ENSP00000424940.1:p.Leu148=
ENST00000512644.1:n.82C>T
ENST00000512841.5:n.562C>T
ENST00000513628.5:c.103C>T	ENSP00000425993.1:p.Leu35=
ENST00000515235.6:n.574C>T
ENST00000515320.5:c.460C>T	ENSP00000424613.1:p.Leu154=
NM_000414.3:c.514C>T	NP_000405.1:p.Leu172=
NM_001199291.2:c.589C>T	NP_001186220.1:p.Leu197=
NM_001199292.1:c.460C>T	NP_001186221.1:p.Leu154=
NM_001292027.1:c.442C>T	NP_001278956.1:p.Leu148=
NM_001292028.1:c.94C>T	NP_001278957.1:p.Leu32=
NM_000414.4:c.514C>T MANE Select	NP_000405.1:p.Leu172=
NM_001199291.3:c.589C>T	NP_001186220.1:p.Leu197=
NM_001199292.2:c.460C>T	NP_001186221.1:p.Leu154=
NM_001292027.2:c.442C>T	NP_001278956.1:p.Leu148=
NM_001292028.2:c.94C>T	NP_001278957.1:p.Leu32=
NM_001374497.1:c.505C>T	NP_001361426.1:p.Leu169=
NM_001374498.1:c.514C>T	NP_001361427.1:p.Leu172=
NM_001374499.1:c.187C>T	NP_001361428.1:p.Leu63=
NM_001374500.1:c.73C>T	NP_001361429.1:p.Leu25=
NM_001374501.1:c.103C>T	NP_001361430.1:p.Leu35=
NM_001374502.1:c.103C>T	NP_001361431.1:p.Leu35=
NM_001374503.1:c.103C>T	NP_001361432.1:p.Leu35=
NR_164653.1:n.593C>T
NR_164654.1:n.781C>T