Canonical Allele Identifier: CA360871086

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531318-A-G
• MyVariant Identifiers: chr5:g.118867013A>G (hg19) ; chr5:g.119531318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531318A>G , CM000667.2:g.119531318A>G	GRCh38
NC_000005.9:g.118867013A>G , CM000667.1:g.118867013A>G	GRCh37
NC_000005.8:g.118894912A>G	NCBI36
NG_008182.1:g.83866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1838A>G	ENSP00000426272.2:p.Lys613Arg
ENST00000518349.6:c.1151A>G	ENSP00000507185.1:p.Lys384Arg
ENST00000682445.1:c.*1788A>G	ENSP00000508061.1:n.*1788A>G
ENST00000682531.1:n.3799A>G
ENST00000682626.1:c.*1413A>G	ENSP00000507857.1:n.*1413A>G
ENST00000682996.1:c.1835A>G	ENSP00000507792.1:p.Lys612Arg
ENST00000683265.1:n.3693A>G
ENST00000683335.1:n.3309A>G
ENST00000683371.1:c.*2037A>G	ENSP00000508376.1:n.*2037A>G
ENST00000683372.1:n.3917A>G
ENST00000683390.1:n.3597A>G
ENST00000683476.1:n.749A>G
ENST00000683549.1:n.3521A>G
ENST00000683936.1:c.*3485A>G	ENSP00000507721.1:n.*3485A>G
ENST00000683974.1:n.3636A>G
ENST00000683996.1:c.*1117A>G	ENSP00000507060.1:n.*1117A>G
ENST00000684131.1:n.3439A>G
ENST00000684160.1:c.*1597A>G	ENSP00000507821.1:n.*1597A>G
ENST00000684214.1:c.1854+1338A>G	ENSP00000508071.1:n.1854+1338A>G
ENST00000414835.7:c.1982A>G	ENSP00000411960.3:p.Lys661Arg
ENST00000510025.7:c.1907A>G MANE Select	ENSP00000424940.3:p.Lys636Arg
ENST00000643250.1:c.*1779A>G	ENSP00000494737.1:n.*1779A>G
ENST00000644146.1:c.*3178A>G	ENSP00000494808.1:n.*3178A>G
ENST00000645099.1:c.1466A>G	ENSP00000496091.1:p.Lys489Arg
ENST00000645702.1:c.*1310A>G	ENSP00000496432.1:n.*1310A>G
ENST00000645832.1:c.*1792A>G	ENSP00000494316.1:n.*1792A>G
ENST00000646058.1:c.1907A>G	ENSP00000493579.1:p.Lys636Arg
ENST00000646355.1:c.*1913A>G	ENSP00000493801.1:n.*1913A>G
ENST00000646554.1:c.*1885A>G	ENSP00000494542.1:n.*1885A>G
ENST00000647335.1:c.*1874A>G	ENSP00000495180.1:n.*1874A>G
ENST00000647342.1:c.*1838A>G	ENSP00000494992.1:n.*1838A>G
ENST00000256216.10:c.1907A>G	ENSP00000256216.6:p.Lys636Arg
ENST00000414835.6:c.1487A>G	ENSP00000411960.2:p.Lys496Arg
ENST00000442060.7:c.*462A>G	ENSP00000390208.3:n.*462A>G
ENST00000504811.5:c.1982A>G	ENSP00000420914.1:p.Lys661Arg
ENST00000509514.5:c.1121A>G	ENSP00000426272.1:p.Lys374Arg
ENST00000509606.1:n.202A>G
ENST00000509951.5:n.309+1338A>G
ENST00000510025.5:c.1835A>G	ENSP00000424940.1:p.Lys612Arg
ENST00000513628.5:c.1496A>G	ENSP00000425993.1:p.Lys499Arg
ENST00000515235.6:n.3660A>G
ENST00000515320.5:c.1853A>G	ENSP00000424613.1:p.Lys618Arg
ENST00000522415.5:n.574A>G
NM_000414.3:c.1907A>G	NP_000405.1:p.Lys636Arg
NM_001199291.2:c.1982A>G	NP_001186220.1:p.Lys661Arg
NM_001199292.1:c.1853A>G	NP_001186221.1:p.Lys618Arg
NM_001292027.1:c.1835A>G	NP_001278956.1:p.Lys612Arg
NM_001292028.1:c.1487A>G	NP_001278957.1:p.Lys496Arg
NM_000414.4:c.1907A>G MANE Select	NP_000405.1:p.Lys636Arg
NM_001199291.3:c.1982A>G	NP_001186220.1:p.Lys661Arg
NM_001199292.2:c.1853A>G	NP_001186221.1:p.Lys618Arg
NM_001292027.2:c.1835A>G	NP_001278956.1:p.Lys612Arg
NM_001292028.2:c.1487A>G	NP_001278957.1:p.Lys496Arg
NM_001374497.1:c.1898A>G	NP_001361426.1:p.Lys633Arg
NM_001374498.1:c.1835A>G	NP_001361427.1:p.Lys612Arg
NM_001374499.1:c.1580A>G	NP_001361428.1:p.Lys527Arg
NM_001374500.1:c.1466A>G	NP_001361429.1:p.Lys489Arg
NM_001374501.1:c.1496A>G	NP_001361430.1:p.Lys499Arg
NM_001374502.1:c.1496A>G	NP_001361431.1:p.Lys499Arg
NM_001374503.1:c.1496A>G	NP_001361432.1:p.Lys499Arg
NR_164653.1:n.2004A>G
NR_164654.1:n.2272A>G