Canonical Allele Identifier: CA360866172

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1167534373
• gnomAD v2: 5-118814582-A-G
• gnomAD v4: 5-119478887-A-G
• MyVariant Identifiers: chr5:g.118814582A>G (hg19) ; chr5:g.119478887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478887A>G , CM000667.2:g.119478887A>G	GRCh38
NC_000005.9:g.118814582A>G , CM000667.1:g.118814582A>G	GRCh37
NC_000005.8:g.118842481A>G	NCBI36
NG_008182.1:g.31435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.488A>G	ENSP00000426272.2:p.Asn163Ser
ENST00000518349.6:c.113-17656A>G	ENSP00000507185.1:n.113-17656A>G
ENST00000682445.1:c.*369A>G	ENSP00000508061.1:n.*369A>G
ENST00000682531.1:n.589A>G
ENST00000682626.1:c.516A>G	ENSP00000507857.1:p.Gln172=
ENST00000682996.1:c.488A>G	ENSP00000507792.1:p.Asn163Ser
ENST00000683265.1:n.581A>G
ENST00000683371.1:c.*618A>G	ENSP00000508376.1:n.*618A>G
ENST00000683390.1:n.2178A>G
ENST00000683549.1:n.409A>G
ENST00000683936.1:c.*373A>G	ENSP00000507721.1:n.*373A>G
ENST00000683974.1:n.570A>G
ENST00000683996.1:c.77A>G	ENSP00000507060.1:p.Asn26Ser
ENST00000684131.1:n.327A>G
ENST00000684160.1:c.*178A>G	ENSP00000507821.1:n.*178A>G
ENST00000684214.1:c.488A>G	ENSP00000508071.1:p.Asn163Ser
ENST00000414835.7:c.563A>G	ENSP00000411960.3:p.Asn188Ser
ENST00000510025.7:c.488A>G MANE Select	ENSP00000424940.3:p.Asn163Ser
ENST00000643250.1:c.*360A>G	ENSP00000494737.1:n.*360A>G
ENST00000644146.1:c.*66A>G	ENSP00000494808.1:n.*66A>G
ENST00000645099.1:c.47A>G	ENSP00000496091.1:p.Asn16Ser
ENST00000645702.1:c.77A>G	ENSP00000496432.1:p.Asn26Ser
ENST00000645832.1:c.*373A>G	ENSP00000494316.1:n.*373A>G
ENST00000646058.1:c.488A>G	ENSP00000493579.1:p.Asn163Ser
ENST00000646355.1:c.*494A>G	ENSP00000493801.1:n.*494A>G
ENST00000646554.1:c.*466A>G	ENSP00000494542.1:n.*466A>G
ENST00000646590.1:c.479A>G	ENSP00000494892.1:p.Asn160Ser
ENST00000647335.1:c.*455A>G	ENSP00000495180.1:n.*455A>G
ENST00000647342.1:c.*419A>G	ENSP00000494992.1:n.*419A>G
ENST00000256216.10:c.488A>G	ENSP00000256216.6:p.Asn163Ser
ENST00000414835.6:c.68A>G	ENSP00000411960.2:p.Asn23Ser
ENST00000442060.7:c.488A>G	ENSP00000390208.3:p.Asn163Ser
ENST00000503168.5:n.477A>G
ENST00000504811.5:c.563A>G	ENSP00000420914.1:p.Asn188Ser
ENST00000505181.5:n.191A>G
ENST00000508788.5:n.390A>G
ENST00000509514.5:c.-397A>G	ENSP00000426272.1:n.-397A>G
ENST00000510025.5:c.416A>G	ENSP00000424940.1:p.Asn139Ser
ENST00000512644.1:n.56A>G
ENST00000512841.5:n.536A>G
ENST00000513628.5:c.77A>G	ENSP00000425993.1:p.Asn26Ser
ENST00000515235.6:n.548A>G
ENST00000515320.5:c.434A>G	ENSP00000424613.1:p.Asn145Ser
NM_000414.3:c.488A>G	NP_000405.1:p.Asn163Ser
NM_001199291.2:c.563A>G	NP_001186220.1:p.Asn188Ser
NM_001199292.1:c.434A>G	NP_001186221.1:p.Asn145Ser
NM_001292027.1:c.416A>G	NP_001278956.1:p.Asn139Ser
NM_001292028.1:c.68A>G	NP_001278957.1:p.Asn23Ser
NM_000414.4:c.488A>G MANE Select	NP_000405.1:p.Asn163Ser
NM_001199291.3:c.563A>G	NP_001186220.1:p.Asn188Ser
NM_001199292.2:c.434A>G	NP_001186221.1:p.Asn145Ser
NM_001292027.2:c.416A>G	NP_001278956.1:p.Asn139Ser
NM_001292028.2:c.68A>G	NP_001278957.1:p.Asn23Ser
NM_001374497.1:c.479A>G	NP_001361426.1:p.Asn160Ser
NM_001374498.1:c.488A>G	NP_001361427.1:p.Asn163Ser
NM_001374499.1:c.161A>G	NP_001361428.1:p.Asn54Ser
NM_001374500.1:c.47A>G	NP_001361429.1:p.Asn16Ser
NM_001374501.1:c.77A>G	NP_001361430.1:p.Asn26Ser
NM_001374502.1:c.77A>G	NP_001361431.1:p.Asn26Ser
NM_001374503.1:c.77A>G	NP_001361432.1:p.Asn26Ser
NR_164653.1:n.567A>G
NR_164654.1:n.755A>G