Canonical Allele Identifier: CA3382214
Gene: HSD17B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371413
dbSNP Id: rs137853097

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119509176A>G , CM000667.2:g.119509176A>G GRCh38
NC_000005.9:g.118844871A>G , CM000667.1:g.118844871A>G GRCh37
NC_000005.8:g.118872770A>G NCBI36
NG_008182.1:g.61724A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000509514.6:c.1334-34A>G ENSP00000426272.2:n.1334-34A>G
ENST00000518349.6:c.613A>G ENSP00000507185.1:p.Asn205Asp
ENST00000682445.1:c.*1250A>G ENSP00000508061.1:n.*1250A>G
ENST00000682531.1:n.3261A>G
ENST00000682626.1:c.*875A>G ENSP00000507857.1:n.*875A>G
ENST00000682996.1:c.1297A>G ENSP00000507792.1:p.Asn433Asp
ENST00000683265.1:n.3155A>G
ENST00000683371.1:c.*1499A>G ENSP00000508376.1:n.*1499A>G
ENST00000683372.1:n.3379A>G
ENST00000683390.1:n.3059A>G
ENST00000683549.1:n.2983A>G
ENST00000683936.1:c.*2947A>G ENSP00000507721.1:n.*2947A>G
ENST00000683974.1:n.3144A>G
ENST00000683996.1:c.*579A>G ENSP00000507060.1:n.*579A>G
ENST00000684131.1:n.2901A>G
ENST00000684160.1:c.*1059A>G ENSP00000507821.1:n.*1059A>G
ENST00000684214.1:c.1369A>G ENSP00000508071.1:p.Asn457Asp
ENST00000414835.7:c.1444A>G ENSP00000411960.3:p.Asn482Asp
ENST00000510025.7:c.1369A>G MANE Select ENSP00000424940.3:p.Asn457Asp
ENST00000643250.1:c.*1241A>G ENSP00000494737.1:n.*1241A>G
ENST00000644146.1:c.*2640A>G ENSP00000494808.1:n.*2640A>G
ENST00000645099.1:c.928A>G ENSP00000496091.1:p.Asn310Asp
ENST00000645702.1:c.*772A>G ENSP00000496432.1:n.*772A>G
ENST00000645832.1:c.*1254A>G ENSP00000494316.1:n.*1254A>G
ENST00000646058.1:c.1369A>G ENSP00000493579.1:p.Asn457Asp
ENST00000646355.1:c.*1375A>G ENSP00000493801.1:n.*1375A>G
ENST00000646554.1:c.*1347A>G ENSP00000494542.1:n.*1347A>G
ENST00000647335.1:c.*1336A>G ENSP00000495180.1:n.*1336A>G
ENST00000647342.1:c.*1300A>G ENSP00000494992.1:n.*1300A>G
ENST00000256216.10:c.1369A>G ENSP00000256216.6:p.Asn457Asp
ENST00000414835.6:c.949A>G ENSP00000411960.2:p.Asn317Asp
ENST00000442060.7:c.1369A>G ENSP00000390208.3:p.Asn457Asp
ENST00000504811.5:c.1444A>G ENSP00000420914.1:p.Asn482Asp
ENST00000509514.5:c.583A>G ENSP00000426272.1:p.Asn195Asp
ENST00000510025.5:c.1297A>G ENSP00000424940.1:p.Asn433Asp
ENST00000513628.5:c.958A>G ENSP00000425993.1:p.Asn320Asp
ENST00000515235.6:n.3122A>G
ENST00000515320.5:c.1315A>G ENSP00000424613.1:p.Asn439Asp
ENST00000518349.5:n.503A>G
ENST00000520244.5:n.152A>G
ENST00000522415.5:n.36A>G
NM_000414.3:c.1369A>G NP_000405.1:p.Asn457Asp
NM_001199291.2:c.1444A>G NP_001186220.1:p.Asn482Asp
NM_001199292.1:c.1315A>G NP_001186221.1:p.Asn439Asp
NM_001292027.1:c.1297A>G NP_001278956.1:p.Asn433Asp
NM_001292028.1:c.949A>G NP_001278957.1:p.Asn317Asp
NM_000414.4:c.1369A>G MANE Select NP_000405.1:p.Asn457Asp
NM_001199291.3:c.1444A>G NP_001186220.1:p.Asn482Asp
NM_001199292.2:c.1315A>G NP_001186221.1:p.Asn439Asp
NM_001292027.2:c.1297A>G NP_001278956.1:p.Asn433Asp
NM_001292028.2:c.949A>G NP_001278957.1:p.Asn317Asp
NM_001374497.1:c.1360A>G NP_001361426.1:p.Asn454Asp
NM_001374498.1:c.1297A>G NP_001361427.1:p.Asn433Asp
NM_001374499.1:c.1042A>G NP_001361428.1:p.Asn348Asp
NM_001374500.1:c.928A>G NP_001361429.1:p.Asn310Asp
NM_001374501.1:c.958A>G NP_001361430.1:p.Asn320Asp
NM_001374502.1:c.958A>G NP_001361431.1:p.Asn320Asp
NM_001374503.1:c.958A>G NP_001361432.1:p.Asn320Asp
NR_164653.1:n.1466A>G
NR_164654.1:n.1734A>G