Canonical Allele Identifier: CA3381876

Gene: HSD17B4

Linked Data

• dbSNP Id: rs767169728
• ExAC: 5:118814656 C / T
• gnomAD v2: 5-118814656-C-T
• gnomAD v4: 5-119478961-C-T
• MyVariant Identifiers: chr5:g.118814656C>T (hg19) ; chr5:g.119478961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478961C>T , CM000667.2:g.119478961C>T	GRCh38
NC_000005.9:g.118814656C>T , CM000667.1:g.118814656C>T	GRCh37
NC_000005.8:g.118842555C>T	NCBI36
NG_008182.1:g.31509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.562C>T	ENSP00000426272.2:p.His188Tyr
ENST00000518349.6:c.113-17582C>T	ENSP00000507185.1:n.113-17582C>T
ENST00000682445.1:c.*443C>T	ENSP00000508061.1:n.*443C>T
ENST00000682531.1:n.663C>T
ENST00000682626.1:c.*68C>T	ENSP00000507857.1:n.*68C>T
ENST00000682996.1:c.562C>T	ENSP00000507792.1:p.His188Tyr
ENST00000683265.1:n.655C>T
ENST00000683371.1:c.*692C>T	ENSP00000508376.1:n.*692C>T
ENST00000683390.1:n.2252C>T
ENST00000683549.1:n.483C>T
ENST00000683936.1:c.*447C>T	ENSP00000507721.1:n.*447C>T
ENST00000683974.1:n.644C>T
ENST00000683996.1:c.151C>T	ENSP00000507060.1:p.His51Tyr
ENST00000684131.1:n.401C>T
ENST00000684160.1:c.*252C>T	ENSP00000507821.1:n.*252C>T
ENST00000684214.1:c.562C>T	ENSP00000508071.1:p.His188Tyr
ENST00000414835.7:c.637C>T	ENSP00000411960.3:p.His213Tyr
ENST00000510025.7:c.562C>T MANE Select	ENSP00000424940.3:p.His188Tyr
ENST00000643250.1:c.*434C>T	ENSP00000494737.1:n.*434C>T
ENST00000644146.1:c.*140C>T	ENSP00000494808.1:n.*140C>T
ENST00000645099.1:c.121C>T	ENSP00000496091.1:p.His41Tyr
ENST00000645702.1:c.151C>T	ENSP00000496432.1:p.His51Tyr
ENST00000645832.1:c.*447C>T	ENSP00000494316.1:n.*447C>T
ENST00000646058.1:c.562C>T	ENSP00000493579.1:p.His188Tyr
ENST00000646355.1:c.*568C>T	ENSP00000493801.1:n.*568C>T
ENST00000646554.1:c.*540C>T	ENSP00000494542.1:n.*540C>T
ENST00000647335.1:c.*529C>T	ENSP00000495180.1:n.*529C>T
ENST00000647342.1:c.*493C>T	ENSP00000494992.1:n.*493C>T
ENST00000256216.10:c.562C>T	ENSP00000256216.6:p.His188Tyr
ENST00000414835.6:c.142C>T	ENSP00000411960.2:p.His48Tyr
ENST00000442060.7:c.562C>T	ENSP00000390208.3:p.His188Tyr
ENST00000503168.5:n.551C>T
ENST00000504811.5:c.637C>T	ENSP00000420914.1:p.His213Tyr
ENST00000505181.5:n.265C>T
ENST00000509514.5:c.-323C>T	ENSP00000426272.1:n.-323C>T
ENST00000510025.5:c.490C>T	ENSP00000424940.1:p.His164Tyr
ENST00000512644.1:n.130C>T
ENST00000513628.5:c.151C>T	ENSP00000425993.1:p.His51Tyr
ENST00000515235.6:n.622C>T
ENST00000515320.5:c.508C>T	ENSP00000424613.1:p.His170Tyr
NM_000414.3:c.562C>T	NP_000405.1:p.His188Tyr
NM_001199291.2:c.637C>T	NP_001186220.1:p.His213Tyr
NM_001199292.1:c.508C>T	NP_001186221.1:p.His170Tyr
NM_001292027.1:c.490C>T	NP_001278956.1:p.His164Tyr
NM_001292028.1:c.142C>T	NP_001278957.1:p.His48Tyr
NM_000414.4:c.562C>T MANE Select	NP_000405.1:p.His188Tyr
NM_001199291.3:c.637C>T	NP_001186220.1:p.His213Tyr
NM_001199292.2:c.508C>T	NP_001186221.1:p.His170Tyr
NM_001292027.2:c.490C>T	NP_001278956.1:p.His164Tyr
NM_001292028.2:c.142C>T	NP_001278957.1:p.His48Tyr
NM_001374497.1:c.553C>T	NP_001361426.1:p.His185Tyr
NM_001374498.1:c.562C>T	NP_001361427.1:p.His188Tyr
NM_001374499.1:c.235C>T	NP_001361428.1:p.His79Tyr
NM_001374500.1:c.121C>T	NP_001361429.1:p.His41Tyr
NM_001374501.1:c.151C>T	NP_001361430.1:p.His51Tyr
NM_001374502.1:c.151C>T	NP_001361431.1:p.His51Tyr
NM_001374503.1:c.151C>T	NP_001361432.1:p.His51Tyr
NR_164653.1:n.641C>T
NR_164654.1:n.829C>T