Canonical Allele Identifier: CA3382283

Gene: HSD17B4

Linked Data

• dbSNP Id: rs752946061
• ExAC: 5:118850724 A / G
• gnomAD v2: 5-118850724-A-G
• gnomAD v3: 5-119515029-A-G
• gnomAD v4: 5-119515029-A-G
• MyVariant Identifiers: chr5:g.118850724A>G (hg19) ; chr5:g.119515029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515029A>G , CM000667.2:g.119515029A>G	GRCh38
NC_000005.9:g.118850724A>G , CM000667.1:g.118850724A>G	GRCh37
NC_000005.8:g.118878623A>G	NCBI36
NG_008182.1:g.67577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1417A>G	ENSP00000426272.2:p.Thr473Ala
ENST00000518349.6:c.730A>G	ENSP00000507185.1:p.Thr244Ala
ENST00000520244.6:n.3224A>G
ENST00000682445.1:c.*1367A>G	ENSP00000508061.1:n.*1367A>G
ENST00000682531.1:n.3378A>G
ENST00000682626.1:c.*992A>G	ENSP00000507857.1:n.*992A>G
ENST00000682996.1:c.1414A>G	ENSP00000507792.1:p.Thr472Ala
ENST00000683265.1:n.3272A>G
ENST00000683335.1:n.2888A>G
ENST00000683371.1:c.*1616A>G	ENSP00000508376.1:n.*1616A>G
ENST00000683372.1:n.3496A>G
ENST00000683390.1:n.3176A>G
ENST00000683549.1:n.3100A>G
ENST00000683936.1:c.*3064A>G	ENSP00000507721.1:n.*3064A>G
ENST00000683974.1:n.3215A>G
ENST00000683996.1:c.*696A>G	ENSP00000507060.1:n.*696A>G
ENST00000684131.1:n.3018A>G
ENST00000684160.1:c.*1176A>G	ENSP00000507821.1:n.*1176A>G
ENST00000684214.1:c.1486A>G	ENSP00000508071.1:p.Thr496Ala
ENST00000414835.7:c.1561A>G	ENSP00000411960.3:p.Thr521Ala
ENST00000510025.7:c.1486A>G MANE Select	ENSP00000424940.3:p.Thr496Ala
ENST00000643250.1:c.*1358A>G	ENSP00000494737.1:n.*1358A>G
ENST00000644146.1:c.*2757A>G	ENSP00000494808.1:n.*2757A>G
ENST00000645099.1:c.1045A>G	ENSP00000496091.1:p.Thr349Ala
ENST00000645702.1:c.*889A>G	ENSP00000496432.1:n.*889A>G
ENST00000645832.1:c.*1371A>G	ENSP00000494316.1:n.*1371A>G
ENST00000646058.1:c.1486A>G	ENSP00000493579.1:p.Thr496Ala
ENST00000646355.1:c.*1492A>G	ENSP00000493801.1:n.*1492A>G
ENST00000646554.1:c.*1464A>G	ENSP00000494542.1:n.*1464A>G
ENST00000647335.1:c.*1453A>G	ENSP00000495180.1:n.*1453A>G
ENST00000647342.1:c.*1417A>G	ENSP00000494992.1:n.*1417A>G
ENST00000256216.10:c.1486A>G	ENSP00000256216.6:p.Thr496Ala
ENST00000414835.6:c.1066A>G	ENSP00000411960.2:p.Thr356Ala
ENST00000442060.7:c.*48A>G	ENSP00000390208.3:n.*48A>G
ENST00000504811.5:c.1561A>G	ENSP00000420914.1:p.Thr521Ala
ENST00000509514.5:c.700A>G	ENSP00000426272.1:p.Thr234Ala
ENST00000510025.5:c.1414A>G	ENSP00000424940.1:p.Thr472Ala
ENST00000513628.5:c.1075A>G	ENSP00000425993.1:p.Thr359Ala
ENST00000515235.6:n.3239A>G
ENST00000515320.5:c.1432A>G	ENSP00000424613.1:p.Thr478Ala
ENST00000518349.5:n.620A>G
ENST00000520244.5:n.269A>G
ENST00000522415.5:n.153A>G
NM_000414.3:c.1486A>G	NP_000405.1:p.Thr496Ala
NM_001199291.2:c.1561A>G	NP_001186220.1:p.Thr521Ala
NM_001199292.1:c.1432A>G	NP_001186221.1:p.Thr478Ala
NM_001292027.1:c.1414A>G	NP_001278956.1:p.Thr472Ala
NM_001292028.1:c.1066A>G	NP_001278957.1:p.Thr356Ala
NM_000414.4:c.1486A>G MANE Select	NP_000405.1:p.Thr496Ala
NM_001199291.3:c.1561A>G	NP_001186220.1:p.Thr521Ala
NM_001199292.2:c.1432A>G	NP_001186221.1:p.Thr478Ala
NM_001292027.2:c.1414A>G	NP_001278956.1:p.Thr472Ala
NM_001292028.2:c.1066A>G	NP_001278957.1:p.Thr356Ala
NM_001374497.1:c.1477A>G	NP_001361426.1:p.Thr493Ala
NM_001374498.1:c.1414A>G	NP_001361427.1:p.Thr472Ala
NM_001374499.1:c.1159A>G	NP_001361428.1:p.Thr387Ala
NM_001374500.1:c.1045A>G	NP_001361429.1:p.Thr349Ala
NM_001374501.1:c.1075A>G	NP_001361430.1:p.Thr359Ala
NM_001374502.1:c.1075A>G	NP_001361431.1:p.Thr359Ala
NM_001374503.1:c.1075A>G	NP_001361432.1:p.Thr359Ala
NR_164653.1:n.1583A>G
NR_164654.1:n.1851A>G