Canonical Allele Identifier: CA360868889

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1752483761
• gnomAD v4: 5-119514981-G-A
• MyVariant Identifiers: chr5:g.118850676G>A (hg19) ; chr5:g.119514981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514981G>A , CM000667.2:g.119514981G>A	GRCh38
NC_000005.9:g.118850676G>A , CM000667.1:g.118850676G>A	GRCh37
NC_000005.8:g.118878575G>A	NCBI36
NG_008182.1:g.67529G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1369G>A	ENSP00000426272.2:p.Val457Ile
ENST00000518349.6:c.682G>A	ENSP00000507185.1:p.Val228Ile
ENST00000520244.6:n.3176G>A
ENST00000682445.1:c.*1319G>A	ENSP00000508061.1:n.*1319G>A
ENST00000682531.1:n.3330G>A
ENST00000682626.1:c.*944G>A	ENSP00000507857.1:n.*944G>A
ENST00000682996.1:c.1366G>A	ENSP00000507792.1:p.Val456Ile
ENST00000683265.1:n.3224G>A
ENST00000683335.1:n.2840G>A
ENST00000683371.1:c.*1568G>A	ENSP00000508376.1:n.*1568G>A
ENST00000683372.1:n.3448G>A
ENST00000683390.1:n.3128G>A
ENST00000683549.1:n.3052G>A
ENST00000683936.1:c.*3016G>A	ENSP00000507721.1:n.*3016G>A
ENST00000683974.1:n.3213-46G>A
ENST00000683996.1:c.*648G>A	ENSP00000507060.1:n.*648G>A
ENST00000684131.1:n.2970G>A
ENST00000684160.1:c.*1128G>A	ENSP00000507821.1:n.*1128G>A
ENST00000684214.1:c.1438G>A	ENSP00000508071.1:p.Val480Ile
ENST00000414835.7:c.1513G>A	ENSP00000411960.3:p.Val505Ile
ENST00000510025.7:c.1438G>A MANE Select	ENSP00000424940.3:p.Val480Ile
ENST00000643250.1:c.*1310G>A	ENSP00000494737.1:n.*1310G>A
ENST00000644146.1:c.*2709G>A	ENSP00000494808.1:n.*2709G>A
ENST00000645099.1:c.997G>A	ENSP00000496091.1:p.Val333Ile
ENST00000645702.1:c.*841G>A	ENSP00000496432.1:n.*841G>A
ENST00000645832.1:c.*1323G>A	ENSP00000494316.1:n.*1323G>A
ENST00000646058.1:c.1438G>A	ENSP00000493579.1:p.Val480Ile
ENST00000646355.1:c.*1444G>A	ENSP00000493801.1:n.*1444G>A
ENST00000646554.1:c.*1416G>A	ENSP00000494542.1:n.*1416G>A
ENST00000647335.1:c.*1405G>A	ENSP00000495180.1:n.*1405G>A
ENST00000647342.1:c.*1369G>A	ENSP00000494992.1:n.*1369G>A
ENST00000256216.10:c.1438G>A	ENSP00000256216.6:p.Val480Ile
ENST00000414835.6:c.1018G>A	ENSP00000411960.2:p.Val340Ile
ENST00000442060.7:c.1503G>A	ENSP00000390208.3:p.Ter501=
ENST00000504811.5:c.1513G>A	ENSP00000420914.1:p.Val505Ile
ENST00000509514.5:c.652G>A	ENSP00000426272.1:p.Val218Ile
ENST00000510025.5:c.1366G>A	ENSP00000424940.1:p.Val456Ile
ENST00000513628.5:c.1027G>A	ENSP00000425993.1:p.Val343Ile
ENST00000515235.6:n.3191G>A
ENST00000515320.5:c.1384G>A	ENSP00000424613.1:p.Val462Ile
ENST00000518349.5:n.572G>A
ENST00000520244.5:n.221G>A
ENST00000522415.5:n.105G>A
NM_000414.3:c.1438G>A	NP_000405.1:p.Val480Ile
NM_001199291.2:c.1513G>A	NP_001186220.1:p.Val505Ile
NM_001199292.1:c.1384G>A	NP_001186221.1:p.Val462Ile
NM_001292027.1:c.1366G>A	NP_001278956.1:p.Val456Ile
NM_001292028.1:c.1018G>A	NP_001278957.1:p.Val340Ile
NM_000414.4:c.1438G>A MANE Select	NP_000405.1:p.Val480Ile
NM_001199291.3:c.1513G>A	NP_001186220.1:p.Val505Ile
NM_001199292.2:c.1384G>A	NP_001186221.1:p.Val462Ile
NM_001292027.2:c.1366G>A	NP_001278956.1:p.Val456Ile
NM_001292028.2:c.1018G>A	NP_001278957.1:p.Val340Ile
NM_001374497.1:c.1429G>A	NP_001361426.1:p.Val477Ile
NM_001374498.1:c.1366G>A	NP_001361427.1:p.Val456Ile
NM_001374499.1:c.1111G>A	NP_001361428.1:p.Val371Ile
NM_001374500.1:c.997G>A	NP_001361429.1:p.Val333Ile
NM_001374501.1:c.1027G>A	NP_001361430.1:p.Val343Ile
NM_001374502.1:c.1027G>A	NP_001361431.1:p.Val343Ile
NM_001374503.1:c.1027G>A	NP_001361432.1:p.Val343Ile
NR_164653.1:n.1535G>A
NR_164654.1:n.1803G>A