Canonical Allele Identifier: CA360868887

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2036315
• ClinVar RCV Id: RCV002894873
• MyVariant Identifiers: chr5:g.118850675G>C (hg19) ; chr5:g.119514980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514980G>C , CM000667.2:g.119514980G>C	GRCh38
NC_000005.9:g.118850675G>C , CM000667.1:g.118850675G>C	GRCh37
NC_000005.8:g.118878574G>C	NCBI36
NG_008182.1:g.67528G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1369-1G>C	ENSP00000426272.2:n.1369-1G>C
ENST00000518349.6:c.682-1G>C	ENSP00000507185.1:n.682-1G>C
ENST00000520244.6:n.3175G>C
ENST00000682445.1:c.*1319-1G>C	ENSP00000508061.1:n.*1319-1G>C
ENST00000682531.1:n.3330-1G>C
ENST00000682626.1:c.*944-1G>C	ENSP00000507857.1:n.*944-1G>C
ENST00000682996.1:c.1366-1G>C	ENSP00000507792.1:n.1366-1G>C
ENST00000683265.1:n.3224-1G>C
ENST00000683335.1:n.2839G>C
ENST00000683371.1:c.*1568-1G>C	ENSP00000508376.1:n.*1568-1G>C
ENST00000683372.1:n.3448-1G>C
ENST00000683390.1:n.3128-1G>C
ENST00000683549.1:n.3052-1G>C
ENST00000683936.1:c.*3016-1G>C	ENSP00000507721.1:n.*3016-1G>C
ENST00000683974.1:n.3213-47G>C
ENST00000683996.1:c.*648-1G>C	ENSP00000507060.1:n.*648-1G>C
ENST00000684131.1:n.2970-1G>C
ENST00000684160.1:c.*1128-1G>C	ENSP00000507821.1:n.*1128-1G>C
ENST00000684214.1:c.1438-1G>C	ENSP00000508071.1:n.1438-1G>C
ENST00000414835.7:c.1513-1G>C	ENSP00000411960.3:n.1513-1G>C
ENST00000510025.7:c.1438-1G>C MANE Select	ENSP00000424940.3:n.1438-1G>C
ENST00000643250.1:c.*1310-1G>C	ENSP00000494737.1:n.*1310-1G>C
ENST00000644146.1:c.*2709-1G>C	ENSP00000494808.1:n.*2709-1G>C
ENST00000645099.1:c.997-1G>C	ENSP00000496091.1:n.997-1G>C
ENST00000645702.1:c.*841-1G>C	ENSP00000496432.1:n.*841-1G>C
ENST00000645832.1:c.*1323-1G>C	ENSP00000494316.1:n.*1323-1G>C
ENST00000646058.1:c.1438-1G>C	ENSP00000493579.1:n.1438-1G>C
ENST00000646355.1:c.*1444-1G>C	ENSP00000493801.1:n.*1444-1G>C
ENST00000646554.1:c.*1416-1G>C	ENSP00000494542.1:n.*1416-1G>C
ENST00000647335.1:c.*1405-1G>C	ENSP00000495180.1:n.*1405-1G>C
ENST00000647342.1:c.*1369-1G>C	ENSP00000494992.1:n.*1369-1G>C
ENST00000256216.10:c.1438-1G>C	ENSP00000256216.6:n.1438-1G>C
ENST00000414835.6:c.1018-1G>C	ENSP00000411960.2:n.1018-1G>C
ENST00000442060.7:c.1503-1G>C	ENSP00000390208.3:n.1503-1G>C
ENST00000504811.5:c.1513-1G>C	ENSP00000420914.1:n.1513-1G>C
ENST00000509514.5:c.652-1G>C	ENSP00000426272.1:n.652-1G>C
ENST00000510025.5:c.1366-1G>C	ENSP00000424940.1:n.1366-1G>C
ENST00000513628.5:c.1027-1G>C	ENSP00000425993.1:n.1027-1G>C
ENST00000515235.6:n.3191-1G>C
ENST00000515320.5:c.1384-1G>C	ENSP00000424613.1:n.1384-1G>C
ENST00000518349.5:n.572-1G>C
ENST00000520244.5:n.221-1G>C
ENST00000522415.5:n.105-1G>C
NM_000414.3:c.1438-1G>C	NP_000405.1:n.1438-1G>C
NM_001199291.2:c.1513-1G>C	NP_001186220.1:n.1513-1G>C
NM_001199292.1:c.1384-1G>C	NP_001186221.1:n.1384-1G>C
NM_001292027.1:c.1366-1G>C	NP_001278956.1:n.1366-1G>C
NM_001292028.1:c.1018-1G>C	NP_001278957.1:n.1018-1G>C
NM_000414.4:c.1438-1G>C MANE Select	NP_000405.1:n.1438-1G>C
NM_001199291.3:c.1513-1G>C	NP_001186220.1:n.1513-1G>C
NM_001199292.2:c.1384-1G>C	NP_001186221.1:n.1384-1G>C
NM_001292027.2:c.1366-1G>C	NP_001278956.1:n.1366-1G>C
NM_001292028.2:c.1018-1G>C	NP_001278957.1:n.1018-1G>C
NM_001374497.1:c.1429-1G>C	NP_001361426.1:n.1429-1G>C
NM_001374498.1:c.1366-1G>C	NP_001361427.1:n.1366-1G>C
NM_001374499.1:c.1111-1G>C	NP_001361428.1:n.1111-1G>C
NM_001374500.1:c.997-1G>C	NP_001361429.1:n.997-1G>C
NM_001374501.1:c.1027-1G>C	NP_001361430.1:n.1027-1G>C
NM_001374502.1:c.1027-1G>C	NP_001361431.1:n.1027-1G>C
NM_001374503.1:c.1027-1G>C	NP_001361432.1:n.1027-1G>C
NR_164653.1:n.1535-1G>C
NR_164654.1:n.1803-1G>C