Canonical Allele Identifier: CA360871119

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531325-T-G
• MyVariant Identifiers: chr5:g.118867020T>G (hg19) ; chr5:g.119531325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531325T>G , CM000667.2:g.119531325T>G	GRCh38
NC_000005.9:g.118867020T>G , CM000667.1:g.118867020T>G	GRCh37
NC_000005.8:g.118894919T>G	NCBI36
NG_008182.1:g.83873T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1845T>G	ENSP00000426272.2:p.Ile615Met
ENST00000518349.6:c.1158T>G	ENSP00000507185.1:p.Ile386Met
ENST00000682445.1:c.*1795T>G	ENSP00000508061.1:n.*1795T>G
ENST00000682531.1:n.3806T>G
ENST00000682626.1:c.*1420T>G	ENSP00000507857.1:n.*1420T>G
ENST00000682996.1:c.1842T>G	ENSP00000507792.1:p.Ile614Met
ENST00000683265.1:n.3700T>G
ENST00000683335.1:n.3316T>G
ENST00000683371.1:c.*2044T>G	ENSP00000508376.1:n.*2044T>G
ENST00000683372.1:n.3924T>G
ENST00000683390.1:n.3604T>G
ENST00000683476.1:n.756T>G
ENST00000683549.1:n.3528T>G
ENST00000683936.1:c.*3492T>G	ENSP00000507721.1:n.*3492T>G
ENST00000683974.1:n.3643T>G
ENST00000683996.1:c.*1124T>G	ENSP00000507060.1:n.*1124T>G
ENST00000684131.1:n.3446T>G
ENST00000684160.1:c.*1604T>G	ENSP00000507821.1:n.*1604T>G
ENST00000684214.1:c.1854+1345T>G	ENSP00000508071.1:n.1854+1345T>G
ENST00000414835.7:c.1989T>G	ENSP00000411960.3:p.Ile663Met
ENST00000510025.7:c.1914T>G MANE Select	ENSP00000424940.3:p.Ile638Met
ENST00000643250.1:c.*1786T>G	ENSP00000494737.1:n.*1786T>G
ENST00000644146.1:c.*3185T>G	ENSP00000494808.1:n.*3185T>G
ENST00000645099.1:c.1473T>G	ENSP00000496091.1:p.Ile491Met
ENST00000645702.1:c.*1317T>G	ENSP00000496432.1:n.*1317T>G
ENST00000645832.1:c.*1799T>G	ENSP00000494316.1:n.*1799T>G
ENST00000646058.1:c.1914T>G	ENSP00000493579.1:p.Ile638Met
ENST00000646355.1:c.*1920T>G	ENSP00000493801.1:n.*1920T>G
ENST00000646554.1:c.*1892T>G	ENSP00000494542.1:n.*1892T>G
ENST00000647335.1:c.*1881T>G	ENSP00000495180.1:n.*1881T>G
ENST00000647342.1:c.*1845T>G	ENSP00000494992.1:n.*1845T>G
ENST00000256216.10:c.1914T>G	ENSP00000256216.6:p.Ile638Met
ENST00000414835.6:c.1494T>G	ENSP00000411960.2:p.Ile498Met
ENST00000442060.7:c.*469T>G	ENSP00000390208.3:n.*469T>G
ENST00000504811.5:c.1989T>G	ENSP00000420914.1:p.Ile663Met
ENST00000509514.5:c.1128T>G	ENSP00000426272.1:p.Ile376Met
ENST00000509606.1:n.209T>G
ENST00000509951.5:n.309+1345T>G
ENST00000510025.5:c.1842T>G	ENSP00000424940.1:p.Ile614Met
ENST00000513628.5:c.1503T>G	ENSP00000425993.1:p.Ile501Met
ENST00000515235.6:n.3667T>G
ENST00000515320.5:c.1860T>G	ENSP00000424613.1:p.Ile620Met
ENST00000522415.5:n.581T>G
NM_000414.3:c.1914T>G	NP_000405.1:p.Ile638Met
NM_001199291.2:c.1989T>G	NP_001186220.1:p.Ile663Met
NM_001199292.1:c.1860T>G	NP_001186221.1:p.Ile620Met
NM_001292027.1:c.1842T>G	NP_001278956.1:p.Ile614Met
NM_001292028.1:c.1494T>G	NP_001278957.1:p.Ile498Met
NM_000414.4:c.1914T>G MANE Select	NP_000405.1:p.Ile638Met
NM_001199291.3:c.1989T>G	NP_001186220.1:p.Ile663Met
NM_001199292.2:c.1860T>G	NP_001186221.1:p.Ile620Met
NM_001292027.2:c.1842T>G	NP_001278956.1:p.Ile614Met
NM_001292028.2:c.1494T>G	NP_001278957.1:p.Ile498Met
NM_001374497.1:c.1905T>G	NP_001361426.1:p.Ile635Met
NM_001374498.1:c.1842T>G	NP_001361427.1:p.Ile614Met
NM_001374499.1:c.1587T>G	NP_001361428.1:p.Ile529Met
NM_001374500.1:c.1473T>G	NP_001361429.1:p.Ile491Met
NM_001374501.1:c.1503T>G	NP_001361430.1:p.Ile501Met
NM_001374502.1:c.1503T>G	NP_001361431.1:p.Ile501Met
NM_001374503.1:c.1503T>G	NP_001361432.1:p.Ile501Met
NR_164653.1:n.2011T>G
NR_164654.1:n.2279T>G