Canonical Allele Identifier: CA3382463

Gene: HSD17B4

Linked Data

• dbSNP Id: rs149463020
• ExAC: 5:118867018 A / G
• gnomAD v2: 5-118867018-A-G
• gnomAD v4: 5-119531323-A-G
• MyVariant Identifiers: chr5:g.118867018A>G (hg19) ; chr5:g.119531323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531323A>G , CM000667.2:g.119531323A>G	GRCh38
NC_000005.9:g.118867018A>G , CM000667.1:g.118867018A>G	GRCh37
NC_000005.8:g.118894917A>G	NCBI36
NG_008182.1:g.83871A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1843A>G	ENSP00000426272.2:p.Ile615Val
ENST00000518349.6:c.1156A>G	ENSP00000507185.1:p.Ile386Val
ENST00000682445.1:c.*1793A>G	ENSP00000508061.1:n.*1793A>G
ENST00000682531.1:n.3804A>G
ENST00000682626.1:c.*1418A>G	ENSP00000507857.1:n.*1418A>G
ENST00000682996.1:c.1840A>G	ENSP00000507792.1:p.Ile614Val
ENST00000683265.1:n.3698A>G
ENST00000683335.1:n.3314A>G
ENST00000683371.1:c.*2042A>G	ENSP00000508376.1:n.*2042A>G
ENST00000683372.1:n.3922A>G
ENST00000683390.1:n.3602A>G
ENST00000683476.1:n.754A>G
ENST00000683549.1:n.3526A>G
ENST00000683936.1:c.*3490A>G	ENSP00000507721.1:n.*3490A>G
ENST00000683974.1:n.3641A>G
ENST00000683996.1:c.*1122A>G	ENSP00000507060.1:n.*1122A>G
ENST00000684131.1:n.3444A>G
ENST00000684160.1:c.*1602A>G	ENSP00000507821.1:n.*1602A>G
ENST00000684214.1:c.1854+1343A>G	ENSP00000508071.1:n.1854+1343A>G
ENST00000414835.7:c.1987A>G	ENSP00000411960.3:p.Ile663Val
ENST00000510025.7:c.1912A>G MANE Select	ENSP00000424940.3:p.Ile638Val
ENST00000643250.1:c.*1784A>G	ENSP00000494737.1:n.*1784A>G
ENST00000644146.1:c.*3183A>G	ENSP00000494808.1:n.*3183A>G
ENST00000645099.1:c.1471A>G	ENSP00000496091.1:p.Ile491Val
ENST00000645702.1:c.*1315A>G	ENSP00000496432.1:n.*1315A>G
ENST00000645832.1:c.*1797A>G	ENSP00000494316.1:n.*1797A>G
ENST00000646058.1:c.1912A>G	ENSP00000493579.1:p.Ile638Val
ENST00000646355.1:c.*1918A>G	ENSP00000493801.1:n.*1918A>G
ENST00000646554.1:c.*1890A>G	ENSP00000494542.1:n.*1890A>G
ENST00000647335.1:c.*1879A>G	ENSP00000495180.1:n.*1879A>G
ENST00000647342.1:c.*1843A>G	ENSP00000494992.1:n.*1843A>G
ENST00000256216.10:c.1912A>G	ENSP00000256216.6:p.Ile638Val
ENST00000414835.6:c.1492A>G	ENSP00000411960.2:p.Ile498Val
ENST00000442060.7:c.*467A>G	ENSP00000390208.3:n.*467A>G
ENST00000504811.5:c.1987A>G	ENSP00000420914.1:p.Ile663Val
ENST00000509514.5:c.1126A>G	ENSP00000426272.1:p.Ile376Val
ENST00000509606.1:n.207A>G
ENST00000509951.5:n.309+1343A>G
ENST00000510025.5:c.1840A>G	ENSP00000424940.1:p.Ile614Val
ENST00000513628.5:c.1501A>G	ENSP00000425993.1:p.Ile501Val
ENST00000515235.6:n.3665A>G
ENST00000515320.5:c.1858A>G	ENSP00000424613.1:p.Ile620Val
ENST00000522415.5:n.579A>G
NM_000414.3:c.1912A>G	NP_000405.1:p.Ile638Val
NM_001199291.2:c.1987A>G	NP_001186220.1:p.Ile663Val
NM_001199292.1:c.1858A>G	NP_001186221.1:p.Ile620Val
NM_001292027.1:c.1840A>G	NP_001278956.1:p.Ile614Val
NM_001292028.1:c.1492A>G	NP_001278957.1:p.Ile498Val
NM_000414.4:c.1912A>G MANE Select	NP_000405.1:p.Ile638Val
NM_001199291.3:c.1987A>G	NP_001186220.1:p.Ile663Val
NM_001199292.2:c.1858A>G	NP_001186221.1:p.Ile620Val
NM_001292027.2:c.1840A>G	NP_001278956.1:p.Ile614Val
NM_001292028.2:c.1492A>G	NP_001278957.1:p.Ile498Val
NM_001374497.1:c.1903A>G	NP_001361426.1:p.Ile635Val
NM_001374498.1:c.1840A>G	NP_001361427.1:p.Ile614Val
NM_001374499.1:c.1585A>G	NP_001361428.1:p.Ile529Val
NM_001374500.1:c.1471A>G	NP_001361429.1:p.Ile491Val
NM_001374501.1:c.1501A>G	NP_001361430.1:p.Ile501Val
NM_001374502.1:c.1501A>G	NP_001361431.1:p.Ile501Val
NM_001374503.1:c.1501A>G	NP_001361432.1:p.Ile501Val
NR_164653.1:n.2009A>G
NR_164654.1:n.2277A>G