Canonical Allele Identifier: CA3381885

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2044553
• ClinVar RCV Id: RCV002903774 ; RCV003317625 ; RCV003324053
• dbSNP Id: rs781288160
• ExAC: 5:118814689 C / T
• gnomAD v2: 5-118814689-C-T
• gnomAD v4: 5-119478994-C-T
• MyVariant Identifiers: chr5:g.118814689C>T (hg19) ; chr5:g.119478994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478994C>T , CM000667.2:g.119478994C>T	GRCh38
NC_000005.9:g.118814689C>T , CM000667.1:g.118814689C>T	GRCh37
NC_000005.8:g.118842588C>T	NCBI36
NG_008182.1:g.31542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.595C>T	ENSP00000426272.2:p.Arg199Trp
ENST00000518349.6:c.113-17549C>T	ENSP00000507185.1:n.113-17549C>T
ENST00000682445.1:c.*476C>T	ENSP00000508061.1:n.*476C>T
ENST00000682531.1:n.696C>T
ENST00000682626.1:c.*101C>T	ENSP00000507857.1:n.*101C>T
ENST00000682996.1:c.595C>T	ENSP00000507792.1:p.Arg199Trp
ENST00000683265.1:n.688C>T
ENST00000683371.1:c.*725C>T	ENSP00000508376.1:n.*725C>T
ENST00000683390.1:n.2285C>T
ENST00000683549.1:n.516C>T
ENST00000683936.1:c.*480C>T	ENSP00000507721.1:n.*480C>T
ENST00000683974.1:n.677C>T
ENST00000683996.1:c.184C>T	ENSP00000507060.1:p.Arg62Trp
ENST00000684131.1:n.434C>T
ENST00000684160.1:c.*285C>T	ENSP00000507821.1:n.*285C>T
ENST00000684214.1:c.595C>T	ENSP00000508071.1:p.Arg199Trp
ENST00000414835.7:c.670C>T	ENSP00000411960.3:p.Arg224Trp
ENST00000510025.7:c.595C>T MANE Select	ENSP00000424940.3:p.Arg199Trp
ENST00000643250.1:c.*467C>T	ENSP00000494737.1:n.*467C>T
ENST00000644146.1:c.*173C>T	ENSP00000494808.1:n.*173C>T
ENST00000645099.1:c.154C>T	ENSP00000496091.1:p.Arg52Trp
ENST00000645702.1:c.184C>T	ENSP00000496432.1:p.Arg62Trp
ENST00000645832.1:c.*480C>T	ENSP00000494316.1:n.*480C>T
ENST00000646058.1:c.595C>T	ENSP00000493579.1:p.Arg199Trp
ENST00000646355.1:c.*601C>T	ENSP00000493801.1:n.*601C>T
ENST00000646554.1:c.*573C>T	ENSP00000494542.1:n.*573C>T
ENST00000647335.1:c.*562C>T	ENSP00000495180.1:n.*562C>T
ENST00000647342.1:c.*526C>T	ENSP00000494992.1:n.*526C>T
ENST00000256216.10:c.595C>T	ENSP00000256216.6:p.Arg199Trp
ENST00000414835.6:c.175C>T	ENSP00000411960.2:p.Arg59Trp
ENST00000442060.7:c.595C>T	ENSP00000390208.3:p.Arg199Trp
ENST00000503168.5:n.584C>T
ENST00000504811.5:c.670C>T	ENSP00000420914.1:p.Arg224Trp
ENST00000505181.5:n.298C>T
ENST00000509514.5:c.-290C>T	ENSP00000426272.1:n.-290C>T
ENST00000510025.5:c.523C>T	ENSP00000424940.1:p.Arg175Trp
ENST00000512644.1:n.163C>T
ENST00000513628.5:c.184C>T	ENSP00000425993.1:p.Arg62Trp
ENST00000515235.6:n.655C>T
ENST00000515320.5:c.541C>T	ENSP00000424613.1:p.Arg181Trp
NM_000414.3:c.595C>T	NP_000405.1:p.Arg199Trp
NM_001199291.2:c.670C>T	NP_001186220.1:p.Arg224Trp
NM_001199292.1:c.541C>T	NP_001186221.1:p.Arg181Trp
NM_001292027.1:c.523C>T	NP_001278956.1:p.Arg175Trp
NM_001292028.1:c.175C>T	NP_001278957.1:p.Arg59Trp
NM_000414.4:c.595C>T MANE Select	NP_000405.1:p.Arg199Trp
NM_001199291.3:c.670C>T	NP_001186220.1:p.Arg224Trp
NM_001199292.2:c.541C>T	NP_001186221.1:p.Arg181Trp
NM_001292027.2:c.523C>T	NP_001278956.1:p.Arg175Trp
NM_001292028.2:c.175C>T	NP_001278957.1:p.Arg59Trp
NM_001374497.1:c.586C>T	NP_001361426.1:p.Arg196Trp
NM_001374498.1:c.595C>T	NP_001361427.1:p.Arg199Trp
NM_001374499.1:c.268C>T	NP_001361428.1:p.Arg90Trp
NM_001374500.1:c.154C>T	NP_001361429.1:p.Arg52Trp
NM_001374501.1:c.184C>T	NP_001361430.1:p.Arg62Trp
NM_001374502.1:c.184C>T	NP_001361431.1:p.Arg62Trp
NM_001374503.1:c.184C>T	NP_001361432.1:p.Arg62Trp
NR_164653.1:n.674C>T
NR_164654.1:n.862C>T