Canonical Allele Identifier: CA360871255

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1947619
• ClinVar RCV Id: RCV002663464
• gnomAD v4: 5-119531356-G-A
• MyVariant Identifiers: chr5:g.118867051G>A (hg19) ; chr5:g.119531356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531356G>A , CM000667.2:g.119531356G>A	GRCh38
NC_000005.9:g.118867051G>A , CM000667.1:g.118867051G>A	GRCh37
NC_000005.8:g.118894950G>A	NCBI36
NG_008182.1:g.83904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1876G>A	ENSP00000426272.2:p.Val626Ile
ENST00000518349.6:c.1189G>A	ENSP00000507185.1:p.Val397Ile
ENST00000682445.1:c.*1826G>A	ENSP00000508061.1:n.*1826G>A
ENST00000682531.1:n.3837G>A
ENST00000682626.1:c.*1451G>A	ENSP00000507857.1:n.*1451G>A
ENST00000682996.1:c.1873G>A	ENSP00000507792.1:p.Val625Ile
ENST00000683265.1:n.3731G>A
ENST00000683335.1:n.3347G>A
ENST00000683371.1:c.*2075G>A	ENSP00000508376.1:n.*2075G>A
ENST00000683372.1:n.3955G>A
ENST00000683390.1:n.3635G>A
ENST00000683476.1:n.787G>A
ENST00000683549.1:n.3559G>A
ENST00000683936.1:c.*3523G>A	ENSP00000507721.1:n.*3523G>A
ENST00000683974.1:n.3674G>A
ENST00000683996.1:c.*1155G>A	ENSP00000507060.1:n.*1155G>A
ENST00000684131.1:n.3477G>A
ENST00000684160.1:c.*1635G>A	ENSP00000507821.1:n.*1635G>A
ENST00000684214.1:c.1854+1376G>A	ENSP00000508071.1:n.1854+1376G>A
ENST00000414835.7:c.2020G>A	ENSP00000411960.3:p.Val674Ile
ENST00000510025.7:c.1945G>A MANE Select	ENSP00000424940.3:p.Val649Ile
ENST00000643250.1:c.*1817G>A	ENSP00000494737.1:n.*1817G>A
ENST00000644146.1:c.*3216G>A	ENSP00000494808.1:n.*3216G>A
ENST00000645099.1:c.1504G>A	ENSP00000496091.1:p.Val502Ile
ENST00000645702.1:c.*1348G>A	ENSP00000496432.1:n.*1348G>A
ENST00000645832.1:c.*1830G>A	ENSP00000494316.1:n.*1830G>A
ENST00000646058.1:c.1945G>A	ENSP00000493579.1:p.Val649Ile
ENST00000646355.1:c.*1951G>A	ENSP00000493801.1:n.*1951G>A
ENST00000646554.1:c.*1923G>A	ENSP00000494542.1:n.*1923G>A
ENST00000647335.1:c.*1912G>A	ENSP00000495180.1:n.*1912G>A
ENST00000647342.1:c.*1876G>A	ENSP00000494992.1:n.*1876G>A
ENST00000256216.10:c.1945G>A	ENSP00000256216.6:p.Val649Ile
ENST00000414835.6:c.1525G>A	ENSP00000411960.2:p.Val509Ile
ENST00000442060.7:c.*500G>A	ENSP00000390208.3:n.*500G>A
ENST00000504811.5:c.2020G>A	ENSP00000420914.1:p.Val674Ile
ENST00000509514.5:c.1159G>A	ENSP00000426272.1:p.Val387Ile
ENST00000509606.1:n.240G>A
ENST00000509951.5:n.309+1376G>A
ENST00000510025.5:c.1873G>A	ENSP00000424940.1:p.Val625Ile
ENST00000513628.5:c.1534G>A	ENSP00000425993.1:p.Val512Ile
ENST00000515235.6:n.3698G>A
ENST00000515320.5:c.1891G>A	ENSP00000424613.1:p.Val631Ile
ENST00000522415.5:n.612G>A
NM_000414.3:c.1945G>A	NP_000405.1:p.Val649Ile
NM_001199291.2:c.2020G>A	NP_001186220.1:p.Val674Ile
NM_001199292.1:c.1891G>A	NP_001186221.1:p.Val631Ile
NM_001292027.1:c.1873G>A	NP_001278956.1:p.Val625Ile
NM_001292028.1:c.1525G>A	NP_001278957.1:p.Val509Ile
NM_000414.4:c.1945G>A MANE Select	NP_000405.1:p.Val649Ile
NM_001199291.3:c.2020G>A	NP_001186220.1:p.Val674Ile
NM_001199292.2:c.1891G>A	NP_001186221.1:p.Val631Ile
NM_001292027.2:c.1873G>A	NP_001278956.1:p.Val625Ile
NM_001292028.2:c.1525G>A	NP_001278957.1:p.Val509Ile
NM_001374497.1:c.1936G>A	NP_001361426.1:p.Val646Ile
NM_001374498.1:c.1873G>A	NP_001361427.1:p.Val625Ile
NM_001374499.1:c.1618G>A	NP_001361428.1:p.Val540Ile
NM_001374500.1:c.1504G>A	NP_001361429.1:p.Val502Ile
NM_001374501.1:c.1534G>A	NP_001361430.1:p.Val512Ile
NM_001374502.1:c.1534G>A	NP_001361431.1:p.Val512Ile
NM_001374503.1:c.1534G>A	NP_001361432.1:p.Val512Ile
NR_164653.1:n.2042G>A
NR_164654.1:n.2310G>A