Canonical Allele Identifier: CA360868963

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119515020-C-A
• MyVariant Identifiers: chr5:g.118850715C>A (hg19) ; chr5:g.119515020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515020C>A , CM000667.2:g.119515020C>A	GRCh38
NC_000005.9:g.118850715C>A , CM000667.1:g.118850715C>A	GRCh37
NC_000005.8:g.118878614C>A	NCBI36
NG_008182.1:g.67568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1408C>A	ENSP00000426272.2:p.Leu470Ile
ENST00000518349.6:c.721C>A	ENSP00000507185.1:p.Leu241Ile
ENST00000520244.6:n.3215C>A
ENST00000682445.1:c.*1358C>A	ENSP00000508061.1:n.*1358C>A
ENST00000682531.1:n.3369C>A
ENST00000682626.1:c.*983C>A	ENSP00000507857.1:n.*983C>A
ENST00000682996.1:c.1405C>A	ENSP00000507792.1:p.Leu469Ile
ENST00000683265.1:n.3263C>A
ENST00000683335.1:n.2879C>A
ENST00000683371.1:c.*1607C>A	ENSP00000508376.1:n.*1607C>A
ENST00000683372.1:n.3487C>A
ENST00000683390.1:n.3167C>A
ENST00000683549.1:n.3091C>A
ENST00000683936.1:c.*3055C>A	ENSP00000507721.1:n.*3055C>A
ENST00000683974.1:n.3213-7C>A
ENST00000683996.1:c.*687C>A	ENSP00000507060.1:n.*687C>A
ENST00000684131.1:n.3009C>A
ENST00000684160.1:c.*1167C>A	ENSP00000507821.1:n.*1167C>A
ENST00000684214.1:c.1477C>A	ENSP00000508071.1:p.Leu493Ile
ENST00000414835.7:c.1552C>A	ENSP00000411960.3:p.Leu518Ile
ENST00000510025.7:c.1477C>A MANE Select	ENSP00000424940.3:p.Leu493Ile
ENST00000643250.1:c.*1349C>A	ENSP00000494737.1:n.*1349C>A
ENST00000644146.1:c.*2748C>A	ENSP00000494808.1:n.*2748C>A
ENST00000645099.1:c.1036C>A	ENSP00000496091.1:p.Leu346Ile
ENST00000645702.1:c.*880C>A	ENSP00000496432.1:n.*880C>A
ENST00000645832.1:c.*1362C>A	ENSP00000494316.1:n.*1362C>A
ENST00000646058.1:c.1477C>A	ENSP00000493579.1:p.Leu493Ile
ENST00000646355.1:c.*1483C>A	ENSP00000493801.1:n.*1483C>A
ENST00000646554.1:c.*1455C>A	ENSP00000494542.1:n.*1455C>A
ENST00000647335.1:c.*1444C>A	ENSP00000495180.1:n.*1444C>A
ENST00000647342.1:c.*1408C>A	ENSP00000494992.1:n.*1408C>A
ENST00000256216.10:c.1477C>A	ENSP00000256216.6:p.Leu493Ile
ENST00000414835.6:c.1057C>A	ENSP00000411960.2:p.Leu353Ile
ENST00000442060.7:c.*39C>A	ENSP00000390208.3:n.*39C>A
ENST00000504811.5:c.1552C>A	ENSP00000420914.1:p.Leu518Ile
ENST00000509514.5:c.691C>A	ENSP00000426272.1:p.Leu231Ile
ENST00000510025.5:c.1405C>A	ENSP00000424940.1:p.Leu469Ile
ENST00000513628.5:c.1066C>A	ENSP00000425993.1:p.Leu356Ile
ENST00000515235.6:n.3230C>A
ENST00000515320.5:c.1423C>A	ENSP00000424613.1:p.Leu475Ile
ENST00000518349.5:n.611C>A
ENST00000520244.5:n.260C>A
ENST00000522415.5:n.144C>A
NM_000414.3:c.1477C>A	NP_000405.1:p.Leu493Ile
NM_001199291.2:c.1552C>A	NP_001186220.1:p.Leu518Ile
NM_001199292.1:c.1423C>A	NP_001186221.1:p.Leu475Ile
NM_001292027.1:c.1405C>A	NP_001278956.1:p.Leu469Ile
NM_001292028.1:c.1057C>A	NP_001278957.1:p.Leu353Ile
NM_000414.4:c.1477C>A MANE Select	NP_000405.1:p.Leu493Ile
NM_001199291.3:c.1552C>A	NP_001186220.1:p.Leu518Ile
NM_001199292.2:c.1423C>A	NP_001186221.1:p.Leu475Ile
NM_001292027.2:c.1405C>A	NP_001278956.1:p.Leu469Ile
NM_001292028.2:c.1057C>A	NP_001278957.1:p.Leu353Ile
NM_001374497.1:c.1468C>A	NP_001361426.1:p.Leu490Ile
NM_001374498.1:c.1405C>A	NP_001361427.1:p.Leu469Ile
NM_001374499.1:c.1150C>A	NP_001361428.1:p.Leu384Ile
NM_001374500.1:c.1036C>A	NP_001361429.1:p.Leu346Ile
NM_001374501.1:c.1066C>A	NP_001361430.1:p.Leu356Ile
NM_001374502.1:c.1066C>A	NP_001361431.1:p.Leu356Ile
NM_001374503.1:c.1066C>A	NP_001361432.1:p.Leu356Ile
NR_164653.1:n.1574C>A
NR_164654.1:n.1842C>A