Canonical Allele Identifier: CA3381869

Gene: HSD17B4

Linked Data

• dbSNP Id: rs746404368
• ExAC: 5:118814601 G / A
• gnomAD v2: 5-118814601-G-A
• gnomAD v4: 5-119478906-G-A
• MyVariant Identifiers: chr5:g.118814601G>A (hg19) ; chr5:g.119478906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478906G>A , CM000667.2:g.119478906G>A	GRCh38
NC_000005.9:g.118814601G>A , CM000667.1:g.118814601G>A	GRCh37
NC_000005.8:g.118842500G>A	NCBI36
NG_008182.1:g.31454G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.507G>A	ENSP00000426272.2:p.Leu169=
ENST00000518349.6:c.113-17637G>A	ENSP00000507185.1:n.113-17637G>A
ENST00000682445.1:c.*388G>A	ENSP00000508061.1:n.*388G>A
ENST00000682531.1:n.608G>A
ENST00000682626.1:c.*13G>A	ENSP00000507857.1:n.*13G>A
ENST00000682996.1:c.507G>A	ENSP00000507792.1:p.Leu169=
ENST00000683265.1:n.600G>A
ENST00000683371.1:c.*637G>A	ENSP00000508376.1:n.*637G>A
ENST00000683390.1:n.2197G>A
ENST00000683549.1:n.428G>A
ENST00000683936.1:c.*392G>A	ENSP00000507721.1:n.*392G>A
ENST00000683974.1:n.589G>A
ENST00000683996.1:c.96G>A	ENSP00000507060.1:p.Leu32=
ENST00000684131.1:n.346G>A
ENST00000684160.1:c.*197G>A	ENSP00000507821.1:n.*197G>A
ENST00000684214.1:c.507G>A	ENSP00000508071.1:p.Leu169=
ENST00000414835.7:c.582G>A	ENSP00000411960.3:p.Leu194=
ENST00000510025.7:c.507G>A MANE Select	ENSP00000424940.3:p.Leu169=
ENST00000643250.1:c.*379G>A	ENSP00000494737.1:n.*379G>A
ENST00000644146.1:c.*85G>A	ENSP00000494808.1:n.*85G>A
ENST00000645099.1:c.66G>A	ENSP00000496091.1:p.Leu22=
ENST00000645702.1:c.96G>A	ENSP00000496432.1:p.Leu32=
ENST00000645832.1:c.*392G>A	ENSP00000494316.1:n.*392G>A
ENST00000646058.1:c.507G>A	ENSP00000493579.1:p.Leu169=
ENST00000646355.1:c.*513G>A	ENSP00000493801.1:n.*513G>A
ENST00000646554.1:c.*485G>A	ENSP00000494542.1:n.*485G>A
ENST00000646590.1:c.498G>A	ENSP00000494892.1:p.Leu166=
ENST00000647335.1:c.*474G>A	ENSP00000495180.1:n.*474G>A
ENST00000647342.1:c.*438G>A	ENSP00000494992.1:n.*438G>A
ENST00000256216.10:c.507G>A	ENSP00000256216.6:p.Leu169=
ENST00000414835.6:c.87G>A	ENSP00000411960.2:p.Leu29=
ENST00000442060.7:c.507G>A	ENSP00000390208.3:p.Leu169=
ENST00000503168.5:n.496G>A
ENST00000504811.5:c.582G>A	ENSP00000420914.1:p.Leu194=
ENST00000505181.5:n.210G>A
ENST00000508788.5:n.409G>A
ENST00000509514.5:c.-378G>A	ENSP00000426272.1:n.-378G>A
ENST00000510025.5:c.435G>A	ENSP00000424940.1:p.Leu145=
ENST00000512644.1:n.75G>A
ENST00000512841.5:n.555G>A
ENST00000513628.5:c.96G>A	ENSP00000425993.1:p.Leu32=
ENST00000515235.6:n.567G>A
ENST00000515320.5:c.453G>A	ENSP00000424613.1:p.Leu151=
NM_000414.3:c.507G>A	NP_000405.1:p.Leu169=
NM_001199291.2:c.582G>A	NP_001186220.1:p.Leu194=
NM_001199292.1:c.453G>A	NP_001186221.1:p.Leu151=
NM_001292027.1:c.435G>A	NP_001278956.1:p.Leu145=
NM_001292028.1:c.87G>A	NP_001278957.1:p.Leu29=
NM_000414.4:c.507G>A MANE Select	NP_000405.1:p.Leu169=
NM_001199291.3:c.582G>A	NP_001186220.1:p.Leu194=
NM_001199292.2:c.453G>A	NP_001186221.1:p.Leu151=
NM_001292027.2:c.435G>A	NP_001278956.1:p.Leu145=
NM_001292028.2:c.87G>A	NP_001278957.1:p.Leu29=
NM_001374497.1:c.498G>A	NP_001361426.1:p.Leu166=
NM_001374498.1:c.507G>A	NP_001361427.1:p.Leu169=
NM_001374499.1:c.180G>A	NP_001361428.1:p.Leu60=
NM_001374500.1:c.66G>A	NP_001361429.1:p.Leu22=
NM_001374501.1:c.96G>A	NP_001361430.1:p.Leu32=
NM_001374502.1:c.96G>A	NP_001361431.1:p.Leu32=
NM_001374503.1:c.96G>A	NP_001361432.1:p.Leu32=
NR_164653.1:n.586G>A
NR_164654.1:n.774G>A