Canonical Allele Identifier: CA360866443

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1275273236
• gnomAD v2: 5-118814710-C-T
• gnomAD v4: 5-119479015-C-T
• MyVariant Identifiers: chr5:g.118814710C>T (hg19) ; chr5:g.119479015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479015C>T , CM000667.2:g.119479015C>T	GRCh38
NC_000005.9:g.118814710C>T , CM000667.1:g.118814710C>T	GRCh37
NC_000005.8:g.118842609C>T	NCBI36
NG_008182.1:g.31563C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.616C>T	ENSP00000426272.2:p.Pro206Ser
ENST00000518349.6:c.113-17528C>T	ENSP00000507185.1:n.113-17528C>T
ENST00000682445.1:c.*497C>T	ENSP00000508061.1:n.*497C>T
ENST00000682531.1:n.717C>T
ENST00000682626.1:c.*122C>T	ENSP00000507857.1:n.*122C>T
ENST00000682996.1:c.616C>T	ENSP00000507792.1:p.Pro206Ser
ENST00000683265.1:n.709C>T
ENST00000683371.1:c.*746C>T	ENSP00000508376.1:n.*746C>T
ENST00000683390.1:n.2306C>T
ENST00000683549.1:n.537C>T
ENST00000683936.1:c.*501C>T	ENSP00000507721.1:n.*501C>T
ENST00000683974.1:n.698C>T
ENST00000683996.1:c.205C>T	ENSP00000507060.1:p.Pro69Ser
ENST00000684131.1:n.455C>T
ENST00000684160.1:c.*306C>T	ENSP00000507821.1:n.*306C>T
ENST00000684214.1:c.616C>T	ENSP00000508071.1:p.Pro206Ser
ENST00000414835.7:c.691C>T	ENSP00000411960.3:p.Pro231Ser
ENST00000510025.7:c.616C>T MANE Select	ENSP00000424940.3:p.Pro206Ser
ENST00000643250.1:c.*488C>T	ENSP00000494737.1:n.*488C>T
ENST00000644146.1:c.*194C>T	ENSP00000494808.1:n.*194C>T
ENST00000645099.1:c.175C>T	ENSP00000496091.1:p.Pro59Ser
ENST00000645702.1:c.205C>T	ENSP00000496432.1:p.Pro69Ser
ENST00000645832.1:c.*501C>T	ENSP00000494316.1:n.*501C>T
ENST00000646058.1:c.616C>T	ENSP00000493579.1:p.Pro206Ser
ENST00000646355.1:c.*622C>T	ENSP00000493801.1:n.*622C>T
ENST00000646554.1:c.*594C>T	ENSP00000494542.1:n.*594C>T
ENST00000647335.1:c.*583C>T	ENSP00000495180.1:n.*583C>T
ENST00000647342.1:c.*547C>T	ENSP00000494992.1:n.*547C>T
ENST00000256216.10:c.616C>T	ENSP00000256216.6:p.Pro206Ser
ENST00000414835.6:c.196C>T	ENSP00000411960.2:p.Pro66Ser
ENST00000442060.7:c.616C>T	ENSP00000390208.3:p.Pro206Ser
ENST00000504811.5:c.691C>T	ENSP00000420914.1:p.Pro231Ser
ENST00000505181.5:n.319C>T
ENST00000509514.5:c.-269C>T	ENSP00000426272.1:n.-269C>T
ENST00000510025.5:c.544C>T	ENSP00000424940.1:p.Pro182Ser
ENST00000512644.1:n.184C>T
ENST00000513628.5:c.205C>T	ENSP00000425993.1:p.Pro69Ser
ENST00000515235.6:n.676C>T
ENST00000515320.5:c.562C>T	ENSP00000424613.1:p.Pro188Ser
NM_000414.3:c.616C>T	NP_000405.1:p.Pro206Ser
NM_001199291.2:c.691C>T	NP_001186220.1:p.Pro231Ser
NM_001199292.1:c.562C>T	NP_001186221.1:p.Pro188Ser
NM_001292027.1:c.544C>T	NP_001278956.1:p.Pro182Ser
NM_001292028.1:c.196C>T	NP_001278957.1:p.Pro66Ser
NM_000414.4:c.616C>T MANE Select	NP_000405.1:p.Pro206Ser
NM_001199291.3:c.691C>T	NP_001186220.1:p.Pro231Ser
NM_001199292.2:c.562C>T	NP_001186221.1:p.Pro188Ser
NM_001292027.2:c.544C>T	NP_001278956.1:p.Pro182Ser
NM_001292028.2:c.196C>T	NP_001278957.1:p.Pro66Ser
NM_001374497.1:c.607C>T	NP_001361426.1:p.Pro203Ser
NM_001374498.1:c.616C>T	NP_001361427.1:p.Pro206Ser
NM_001374499.1:c.289C>T	NP_001361428.1:p.Pro97Ser
NM_001374500.1:c.175C>T	NP_001361429.1:p.Pro59Ser
NM_001374501.1:c.205C>T	NP_001361430.1:p.Pro69Ser
NM_001374502.1:c.205C>T	NP_001361431.1:p.Pro69Ser
NM_001374503.1:c.205C>T	NP_001361432.1:p.Pro69Ser
NR_164653.1:n.695C>T
NR_164654.1:n.883C>T