Canonical Allele Identifier: CA360866093

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748846433
• gnomAD v3: 5-119478851-C-T
• gnomAD v4: 5-119478851-C-T
• MyVariant Identifiers: chr5:g.118814546C>T (hg19) ; chr5:g.119478851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478851C>T , CM000667.2:g.119478851C>T	GRCh38
NC_000005.9:g.118814546C>T , CM000667.1:g.118814546C>T	GRCh37
NC_000005.8:g.118842445C>T	NCBI36
NG_008182.1:g.31399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.452C>T	ENSP00000426272.2:p.Ser151Leu
ENST00000518349.6:c.113-17692C>T	ENSP00000507185.1:n.113-17692C>T
ENST00000682445.1:c.*333C>T	ENSP00000508061.1:n.*333C>T
ENST00000682531.1:n.553C>T
ENST00000682626.1:c.480C>T	ENSP00000507857.1:p.Ile160=
ENST00000682996.1:c.452C>T	ENSP00000507792.1:p.Ser151Leu
ENST00000683265.1:n.545C>T
ENST00000683371.1:c.*582C>T	ENSP00000508376.1:n.*582C>T
ENST00000683390.1:n.2142C>T
ENST00000683549.1:n.373C>T
ENST00000683936.1:c.*337C>T	ENSP00000507721.1:n.*337C>T
ENST00000683974.1:n.534C>T
ENST00000683996.1:c.41C>T	ENSP00000507060.1:p.Ser14Leu
ENST00000684131.1:n.291C>T
ENST00000684160.1:c.*142C>T	ENSP00000507821.1:n.*142C>T
ENST00000684214.1:c.452C>T	ENSP00000508071.1:p.Ser151Leu
ENST00000414835.7:c.527C>T	ENSP00000411960.3:p.Ser176Leu
ENST00000510025.7:c.452C>T MANE Select	ENSP00000424940.3:p.Ser151Leu
ENST00000643250.1:c.*324C>T	ENSP00000494737.1:n.*324C>T
ENST00000644146.1:c.*30C>T	ENSP00000494808.1:n.*30C>T
ENST00000645099.1:c.11C>T	ENSP00000496091.1:p.Ser4Leu
ENST00000645702.1:c.41C>T	ENSP00000496432.1:p.Ser14Leu
ENST00000645832.1:c.*337C>T	ENSP00000494316.1:n.*337C>T
ENST00000646058.1:c.452C>T	ENSP00000493579.1:p.Ser151Leu
ENST00000646355.1:c.*458C>T	ENSP00000493801.1:n.*458C>T
ENST00000646554.1:c.*430C>T	ENSP00000494542.1:n.*430C>T
ENST00000646590.1:c.443C>T	ENSP00000494892.1:p.Ser148Leu
ENST00000647335.1:c.*419C>T	ENSP00000495180.1:n.*419C>T
ENST00000647342.1:c.*383C>T	ENSP00000494992.1:n.*383C>T
ENST00000256216.10:c.452C>T	ENSP00000256216.6:p.Ser151Leu
ENST00000414835.6:c.32C>T	ENSP00000411960.2:p.Ser11Leu
ENST00000442060.7:c.452C>T	ENSP00000390208.3:p.Ser151Leu
ENST00000503168.5:n.441C>T
ENST00000504811.5:c.527C>T	ENSP00000420914.1:p.Ser176Leu
ENST00000505181.5:n.155C>T
ENST00000508788.5:n.354C>T
ENST00000509514.5:c.-433C>T	ENSP00000426272.1:n.-433C>T
ENST00000510025.5:c.380C>T	ENSP00000424940.1:p.Ser127Leu
ENST00000512644.1:n.20C>T
ENST00000512841.5:n.500C>T
ENST00000513628.5:c.41C>T	ENSP00000425993.1:p.Ser14Leu
ENST00000515235.6:n.512C>T
ENST00000515320.5:c.398C>T	ENSP00000424613.1:p.Ser133Leu
NM_000414.3:c.452C>T	NP_000405.1:p.Ser151Leu
NM_001199291.2:c.527C>T	NP_001186220.1:p.Ser176Leu
NM_001199292.1:c.398C>T	NP_001186221.1:p.Ser133Leu
NM_001292027.1:c.380C>T	NP_001278956.1:p.Ser127Leu
NM_001292028.1:c.32C>T	NP_001278957.1:p.Ser11Leu
NM_000414.4:c.452C>T MANE Select	NP_000405.1:p.Ser151Leu
NM_001199291.3:c.527C>T	NP_001186220.1:p.Ser176Leu
NM_001199292.2:c.398C>T	NP_001186221.1:p.Ser133Leu
NM_001292027.2:c.380C>T	NP_001278956.1:p.Ser127Leu
NM_001292028.2:c.32C>T	NP_001278957.1:p.Ser11Leu
NM_001374497.1:c.443C>T	NP_001361426.1:p.Ser148Leu
NM_001374498.1:c.452C>T	NP_001361427.1:p.Ser151Leu
NM_001374499.1:c.125C>T	NP_001361428.1:p.Ser42Leu
NM_001374500.1:c.11C>T	NP_001361429.1:p.Ser4Leu
NM_001374501.1:c.41C>T	NP_001361430.1:p.Ser14Leu
NM_001374502.1:c.41C>T	NP_001361431.1:p.Ser14Leu
NM_001374503.1:c.41C>T	NP_001361432.1:p.Ser14Leu
NR_164653.1:n.531C>T
NR_164654.1:n.719C>T