Canonical Allele Identifier: CA3381874

Gene: HSD17B4

Linked Data

• dbSNP Id: rs774066654
• ExAC: 5:118814649 C / T
• gnomAD v2: 5-118814649-C-T
• gnomAD v4: 5-119478954-C-T
• MyVariant Identifiers: chr5:g.118814649C>T (hg19) ; chr5:g.119478954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478954C>T , CM000667.2:g.119478954C>T	GRCh38
NC_000005.9:g.118814649C>T , CM000667.1:g.118814649C>T	GRCh37
NC_000005.8:g.118842548C>T	NCBI36
NG_008182.1:g.31502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.555C>T	ENSP00000426272.2:p.Ser185=
ENST00000518349.6:c.113-17589C>T	ENSP00000507185.1:n.113-17589C>T
ENST00000682445.1:c.*436C>T	ENSP00000508061.1:n.*436C>T
ENST00000682531.1:n.656C>T
ENST00000682626.1:c.*61C>T	ENSP00000507857.1:n.*61C>T
ENST00000682996.1:c.555C>T	ENSP00000507792.1:p.Ser185=
ENST00000683265.1:n.648C>T
ENST00000683371.1:c.*685C>T	ENSP00000508376.1:n.*685C>T
ENST00000683390.1:n.2245C>T
ENST00000683549.1:n.476C>T
ENST00000683936.1:c.*440C>T	ENSP00000507721.1:n.*440C>T
ENST00000683974.1:n.637C>T
ENST00000683996.1:c.144C>T	ENSP00000507060.1:p.Ser48=
ENST00000684131.1:n.394C>T
ENST00000684160.1:c.*245C>T	ENSP00000507821.1:n.*245C>T
ENST00000684214.1:c.555C>T	ENSP00000508071.1:p.Ser185=
ENST00000414835.7:c.630C>T	ENSP00000411960.3:p.Ser210=
ENST00000510025.7:c.555C>T MANE Select	ENSP00000424940.3:p.Ser185=
ENST00000643250.1:c.*427C>T	ENSP00000494737.1:n.*427C>T
ENST00000644146.1:c.*133C>T	ENSP00000494808.1:n.*133C>T
ENST00000645099.1:c.114C>T	ENSP00000496091.1:p.Ser38=
ENST00000645702.1:c.144C>T	ENSP00000496432.1:p.Ser48=
ENST00000645832.1:c.*440C>T	ENSP00000494316.1:n.*440C>T
ENST00000646058.1:c.555C>T	ENSP00000493579.1:p.Ser185=
ENST00000646355.1:c.*561C>T	ENSP00000493801.1:n.*561C>T
ENST00000646554.1:c.*533C>T	ENSP00000494542.1:n.*533C>T
ENST00000647335.1:c.*522C>T	ENSP00000495180.1:n.*522C>T
ENST00000647342.1:c.*486C>T	ENSP00000494992.1:n.*486C>T
ENST00000256216.10:c.555C>T	ENSP00000256216.6:p.Ser185=
ENST00000414835.6:c.135C>T	ENSP00000411960.2:p.Ser45=
ENST00000442060.7:c.555C>T	ENSP00000390208.3:p.Ser185=
ENST00000503168.5:n.544C>T
ENST00000504811.5:c.630C>T	ENSP00000420914.1:p.Ser210=
ENST00000505181.5:n.258C>T
ENST00000509514.5:c.-330C>T	ENSP00000426272.1:n.-330C>T
ENST00000510025.5:c.483C>T	ENSP00000424940.1:p.Ser161=
ENST00000512644.1:n.123C>T
ENST00000513628.5:c.144C>T	ENSP00000425993.1:p.Ser48=
ENST00000515235.6:n.615C>T
ENST00000515320.5:c.501C>T	ENSP00000424613.1:p.Ser167=
NM_000414.3:c.555C>T	NP_000405.1:p.Ser185=
NM_001199291.2:c.630C>T	NP_001186220.1:p.Ser210=
NM_001199292.1:c.501C>T	NP_001186221.1:p.Ser167=
NM_001292027.1:c.483C>T	NP_001278956.1:p.Ser161=
NM_001292028.1:c.135C>T	NP_001278957.1:p.Ser45=
NM_000414.4:c.555C>T MANE Select	NP_000405.1:p.Ser185=
NM_001199291.3:c.630C>T	NP_001186220.1:p.Ser210=
NM_001199292.2:c.501C>T	NP_001186221.1:p.Ser167=
NM_001292027.2:c.483C>T	NP_001278956.1:p.Ser161=
NM_001292028.2:c.135C>T	NP_001278957.1:p.Ser45=
NM_001374497.1:c.546C>T	NP_001361426.1:p.Ser182=
NM_001374498.1:c.555C>T	NP_001361427.1:p.Ser185=
NM_001374499.1:c.228C>T	NP_001361428.1:p.Ser76=
NM_001374500.1:c.114C>T	NP_001361429.1:p.Ser38=
NM_001374501.1:c.144C>T	NP_001361430.1:p.Ser48=
NM_001374502.1:c.144C>T	NP_001361431.1:p.Ser48=
NM_001374503.1:c.144C>T	NP_001361432.1:p.Ser48=
NR_164653.1:n.634C>T
NR_164654.1:n.822C>T