Canonical Allele Identifier: CA3382269

Gene: HSD17B4

Linked Data

• dbSNP Id: rs747593673
• ExAC: 5:118850680 C / T
• gnomAD v2: 5-118850680-C-T
• gnomAD v4: 5-119514985-C-T
• MyVariant Identifiers: chr5:g.118850680C>T (hg19) ; chr5:g.119514985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514985C>T , CM000667.2:g.119514985C>T	GRCh38
NC_000005.9:g.118850680C>T , CM000667.1:g.118850680C>T	GRCh37
NC_000005.8:g.118878579C>T	NCBI36
NG_008182.1:g.67533C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1373C>T	ENSP00000426272.2:p.Ala458Val
ENST00000518349.6:c.686C>T	ENSP00000507185.1:p.Ala229Val
ENST00000520244.6:n.3180C>T
ENST00000682445.1:c.*1323C>T	ENSP00000508061.1:n.*1323C>T
ENST00000682531.1:n.3334C>T
ENST00000682626.1:c.*948C>T	ENSP00000507857.1:n.*948C>T
ENST00000682996.1:c.1370C>T	ENSP00000507792.1:p.Ala457Val
ENST00000683265.1:n.3228C>T
ENST00000683335.1:n.2844C>T
ENST00000683371.1:c.*1572C>T	ENSP00000508376.1:n.*1572C>T
ENST00000683372.1:n.3452C>T
ENST00000683390.1:n.3132C>T
ENST00000683549.1:n.3056C>T
ENST00000683936.1:c.*3020C>T	ENSP00000507721.1:n.*3020C>T
ENST00000683974.1:n.3213-42C>T
ENST00000683996.1:c.*652C>T	ENSP00000507060.1:n.*652C>T
ENST00000684131.1:n.2974C>T
ENST00000684160.1:c.*1132C>T	ENSP00000507821.1:n.*1132C>T
ENST00000684214.1:c.1442C>T	ENSP00000508071.1:p.Ala481Val
ENST00000414835.7:c.1517C>T	ENSP00000411960.3:p.Ala506Val
ENST00000510025.7:c.1442C>T MANE Select	ENSP00000424940.3:p.Ala481Val
ENST00000643250.1:c.*1314C>T	ENSP00000494737.1:n.*1314C>T
ENST00000644146.1:c.*2713C>T	ENSP00000494808.1:n.*2713C>T
ENST00000645099.1:c.1001C>T	ENSP00000496091.1:p.Ala334Val
ENST00000645702.1:c.*845C>T	ENSP00000496432.1:n.*845C>T
ENST00000645832.1:c.*1327C>T	ENSP00000494316.1:n.*1327C>T
ENST00000646058.1:c.1442C>T	ENSP00000493579.1:p.Ala481Val
ENST00000646355.1:c.*1448C>T	ENSP00000493801.1:n.*1448C>T
ENST00000646554.1:c.*1420C>T	ENSP00000494542.1:n.*1420C>T
ENST00000647335.1:c.*1409C>T	ENSP00000495180.1:n.*1409C>T
ENST00000647342.1:c.*1373C>T	ENSP00000494992.1:n.*1373C>T
ENST00000256216.10:c.1442C>T	ENSP00000256216.6:p.Ala481Val
ENST00000414835.6:c.1022C>T	ENSP00000411960.2:p.Ala341Val
ENST00000442060.7:c.*4C>T	ENSP00000390208.3:n.*4C>T
ENST00000504811.5:c.1517C>T	ENSP00000420914.1:p.Ala506Val
ENST00000509514.5:c.656C>T	ENSP00000426272.1:p.Ala219Val
ENST00000510025.5:c.1370C>T	ENSP00000424940.1:p.Ala457Val
ENST00000513628.5:c.1031C>T	ENSP00000425993.1:p.Ala344Val
ENST00000515235.6:n.3195C>T
ENST00000515320.5:c.1388C>T	ENSP00000424613.1:p.Ala463Val
ENST00000518349.5:n.576C>T
ENST00000520244.5:n.225C>T
ENST00000522415.5:n.109C>T
NM_000414.3:c.1442C>T	NP_000405.1:p.Ala481Val
NM_001199291.2:c.1517C>T	NP_001186220.1:p.Ala506Val
NM_001199292.1:c.1388C>T	NP_001186221.1:p.Ala463Val
NM_001292027.1:c.1370C>T	NP_001278956.1:p.Ala457Val
NM_001292028.1:c.1022C>T	NP_001278957.1:p.Ala341Val
NM_000414.4:c.1442C>T MANE Select	NP_000405.1:p.Ala481Val
NM_001199291.3:c.1517C>T	NP_001186220.1:p.Ala506Val
NM_001199292.2:c.1388C>T	NP_001186221.1:p.Ala463Val
NM_001292027.2:c.1370C>T	NP_001278956.1:p.Ala457Val
NM_001292028.2:c.1022C>T	NP_001278957.1:p.Ala341Val
NM_001374497.1:c.1433C>T	NP_001361426.1:p.Ala478Val
NM_001374498.1:c.1370C>T	NP_001361427.1:p.Ala457Val
NM_001374499.1:c.1115C>T	NP_001361428.1:p.Ala372Val
NM_001374500.1:c.1001C>T	NP_001361429.1:p.Ala334Val
NM_001374501.1:c.1031C>T	NP_001361430.1:p.Ala344Val
NM_001374502.1:c.1031C>T	NP_001361431.1:p.Ala344Val
NM_001374503.1:c.1031C>T	NP_001361432.1:p.Ala344Val
NR_164653.1:n.1539C>T
NR_164654.1:n.1807C>T