Canonical Allele Identifier: CA16040966
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371241
ClinVar RCV Id: RCV000411180
dbSNP Id: rs1057517118

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119499315A>C , CM000667.2:g.119499315A>C GRCh38
NC_000005.9:g.118835010A>C , CM000667.1:g.118835010A>C GRCh37
NC_000005.8:g.118862909A>C NCBI36
NG_008182.1:g.51863A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.973-2A>C ENSP00000426272.2:n.973-2A>C
ENST00000518349.6:c.217-2A>C ENSP00000507185.1:n.217-2A>C
ENST00000682445.1:c.*854-2A>C ENSP00000508061.1:n.*854-2A>C
ENST00000682531.1:n.2865-2A>C
ENST00000682626.1:c.*479-2A>C ENSP00000507857.1:n.*479-2A>C
ENST00000682996.1:c.973-2A>C ENSP00000507792.1:n.973-2A>C
ENST00000683265.1:n.2759-2A>C
ENST00000683371.1:c.*1103-2A>C ENSP00000508376.1:n.*1103-2A>C
ENST00000683372.1:n.2983-2A>C
ENST00000683390.1:n.2663-2A>C
ENST00000683549.1:n.2587-2A>C
ENST00000683936.1:c.*2551-2A>C ENSP00000507721.1:n.*2551-2A>C
ENST00000683974.1:n.2748-2A>C
ENST00000683996.1:c.*183-2A>C ENSP00000507060.1:n.*183-2A>C
ENST00000684131.1:n.2505-2A>C
ENST00000684160.1:c.*663-2A>C ENSP00000507821.1:n.*663-2A>C
ENST00000684214.1:c.973-2A>C ENSP00000508071.1:n.973-2A>C
ENST00000414835.7:c.1048-2A>C ENSP00000411960.3:n.1048-2A>C
ENST00000510025.7:c.973-2A>C MANE Select ENSP00000424940.3:n.973-2A>C
ENST00000643250.1:c.*845-2A>C ENSP00000494737.1:n.*845-2A>C
ENST00000644146.1:c.*2244-2A>C ENSP00000494808.1:n.*2244-2A>C
ENST00000645099.1:c.532-2A>C ENSP00000496091.1:n.532-2A>C
ENST00000645702.1:c.*376-2A>C ENSP00000496432.1:n.*376-2A>C
ENST00000645832.1:c.*858-2A>C ENSP00000494316.1:n.*858-2A>C
ENST00000646058.1:c.973-2A>C ENSP00000493579.1:n.973-2A>C
ENST00000646355.1:c.*979-2A>C ENSP00000493801.1:n.*979-2A>C
ENST00000646554.1:c.*951-2A>C ENSP00000494542.1:n.*951-2A>C
ENST00000647335.1:c.*940-2A>C ENSP00000495180.1:n.*940-2A>C
ENST00000647342.1:c.*904-2A>C ENSP00000494992.1:n.*904-2A>C
ENST00000256216.10:c.973-2A>C ENSP00000256216.6:n.973-2A>C
ENST00000414835.6:c.553-2A>C ENSP00000411960.2:n.553-2A>C
ENST00000442060.7:c.973-2A>C ENSP00000390208.3:n.973-2A>C
ENST00000504811.5:c.1048-2A>C ENSP00000420914.1:n.1048-2A>C
ENST00000509514.5:c.187-2A>C ENSP00000426272.1:n.187-2A>C
ENST00000510025.5:c.901-2A>C ENSP00000424940.1:n.901-2A>C
ENST00000512029.1:n.92-2A>C
ENST00000513628.5:c.562-2A>C ENSP00000425993.1:n.562-2A>C
ENST00000515235.6:n.2726-2A>C
ENST00000515320.5:c.919-2A>C ENSP00000424613.1:n.919-2A>C
ENST00000518349.5:n.107-2A>C
ENST00000520216.5:n.234-2A>C
NM_000414.3:c.973-2A>C NP_000405.1:n.973-2A>C
NM_001199291.2:c.1048-2A>C NP_001186220.1:n.1048-2A>C
NM_001199292.1:c.919-2A>C NP_001186221.1:n.919-2A>C
NM_001292027.1:c.901-2A>C NP_001278956.1:n.901-2A>C
NM_001292028.1:c.553-2A>C NP_001278957.1:n.553-2A>C
NM_000414.4:c.973-2A>C MANE Select NP_000405.1:n.973-2A>C
NM_001199291.3:c.1048-2A>C NP_001186220.1:n.1048-2A>C
NM_001199292.2:c.919-2A>C NP_001186221.1:n.919-2A>C
NM_001292027.2:c.901-2A>C NP_001278956.1:n.901-2A>C
NM_001292028.2:c.553-2A>C NP_001278957.1:n.553-2A>C
NM_001374497.1:c.964-2A>C NP_001361426.1:n.964-2A>C
NM_001374498.1:c.973-2A>C NP_001361427.1:n.973-2A>C
NM_001374499.1:c.646-2A>C NP_001361428.1:n.646-2A>C
NM_001374500.1:c.532-2A>C NP_001361429.1:n.532-2A>C
NM_001374501.1:c.562-2A>C NP_001361430.1:n.562-2A>C
NM_001374502.1:c.562-2A>C NP_001361431.1:n.562-2A>C
NM_001374503.1:c.562-2A>C NP_001361432.1:n.562-2A>C
NR_164653.1:n.1070-2A>C
NR_164654.1:n.1338-2A>C