Canonical Allele Identifier: CA360868998

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1752492768
• gnomAD v4: 5-119515038-C-G
• MyVariant Identifiers: chr5:g.118850733C>G (hg19) ; chr5:g.119515038C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515038C>G , CM000667.2:g.119515038C>G	GRCh38
NC_000005.9:g.118850733C>G , CM000667.1:g.118850733C>G	GRCh37
NC_000005.8:g.118878632C>G	NCBI36
NG_008182.1:g.67586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1426C>G	ENSP00000426272.2:p.Leu476Val
ENST00000518349.6:c.739C>G	ENSP00000507185.1:p.Leu247Val
ENST00000520244.6:n.3233C>G
ENST00000682445.1:c.*1376C>G	ENSP00000508061.1:n.*1376C>G
ENST00000682531.1:n.3387C>G
ENST00000682626.1:c.*1001C>G	ENSP00000507857.1:n.*1001C>G
ENST00000682996.1:c.1423C>G	ENSP00000507792.1:p.Leu475Val
ENST00000683265.1:n.3281C>G
ENST00000683335.1:n.2897C>G
ENST00000683371.1:c.*1625C>G	ENSP00000508376.1:n.*1625C>G
ENST00000683372.1:n.3505C>G
ENST00000683390.1:n.3185C>G
ENST00000683549.1:n.3109C>G
ENST00000683936.1:c.*3073C>G	ENSP00000507721.1:n.*3073C>G
ENST00000683974.1:n.3224C>G
ENST00000683996.1:c.*705C>G	ENSP00000507060.1:n.*705C>G
ENST00000684131.1:n.3027C>G
ENST00000684160.1:c.*1185C>G	ENSP00000507821.1:n.*1185C>G
ENST00000684214.1:c.1495C>G	ENSP00000508071.1:p.Leu499Val
ENST00000414835.7:c.1570C>G	ENSP00000411960.3:p.Leu524Val
ENST00000510025.7:c.1495C>G MANE Select	ENSP00000424940.3:p.Leu499Val
ENST00000643250.1:c.*1367C>G	ENSP00000494737.1:n.*1367C>G
ENST00000644146.1:c.*2766C>G	ENSP00000494808.1:n.*2766C>G
ENST00000645099.1:c.1054C>G	ENSP00000496091.1:p.Leu352Val
ENST00000645702.1:c.*898C>G	ENSP00000496432.1:n.*898C>G
ENST00000645832.1:c.*1380C>G	ENSP00000494316.1:n.*1380C>G
ENST00000646058.1:c.1495C>G	ENSP00000493579.1:p.Leu499Val
ENST00000646355.1:c.*1501C>G	ENSP00000493801.1:n.*1501C>G
ENST00000646554.1:c.*1473C>G	ENSP00000494542.1:n.*1473C>G
ENST00000647335.1:c.*1462C>G	ENSP00000495180.1:n.*1462C>G
ENST00000647342.1:c.*1426C>G	ENSP00000494992.1:n.*1426C>G
ENST00000256216.10:c.1495C>G	ENSP00000256216.6:p.Leu499Val
ENST00000414835.6:c.1075C>G	ENSP00000411960.2:p.Leu359Val
ENST00000442060.7:c.*57C>G	ENSP00000390208.3:n.*57C>G
ENST00000504811.5:c.1570C>G	ENSP00000420914.1:p.Leu524Val
ENST00000509514.5:c.709C>G	ENSP00000426272.1:p.Leu237Val
ENST00000510025.5:c.1423C>G	ENSP00000424940.1:p.Leu475Val
ENST00000513628.5:c.1084C>G	ENSP00000425993.1:p.Leu362Val
ENST00000515235.6:n.3248C>G
ENST00000515320.5:c.1441C>G	ENSP00000424613.1:p.Leu481Val
ENST00000518349.5:n.629C>G
ENST00000520244.5:n.278C>G
ENST00000522415.5:n.162C>G
NM_000414.3:c.1495C>G	NP_000405.1:p.Leu499Val
NM_001199291.2:c.1570C>G	NP_001186220.1:p.Leu524Val
NM_001199292.1:c.1441C>G	NP_001186221.1:p.Leu481Val
NM_001292027.1:c.1423C>G	NP_001278956.1:p.Leu475Val
NM_001292028.1:c.1075C>G	NP_001278957.1:p.Leu359Val
NM_000414.4:c.1495C>G MANE Select	NP_000405.1:p.Leu499Val
NM_001199291.3:c.1570C>G	NP_001186220.1:p.Leu524Val
NM_001199292.2:c.1441C>G	NP_001186221.1:p.Leu481Val
NM_001292027.2:c.1423C>G	NP_001278956.1:p.Leu475Val
NM_001292028.2:c.1075C>G	NP_001278957.1:p.Leu359Val
NM_001374497.1:c.1486C>G	NP_001361426.1:p.Leu496Val
NM_001374498.1:c.1423C>G	NP_001361427.1:p.Leu475Val
NM_001374499.1:c.1168C>G	NP_001361428.1:p.Leu390Val
NM_001374500.1:c.1054C>G	NP_001361429.1:p.Leu352Val
NM_001374501.1:c.1084C>G	NP_001361430.1:p.Leu362Val
NM_001374502.1:c.1084C>G	NP_001361431.1:p.Leu362Val
NM_001374503.1:c.1084C>G	NP_001361432.1:p.Leu362Val
NR_164653.1:n.1592C>G
NR_164654.1:n.1860C>G