Canonical Allele Identifier: CA360869120
Community Standard Title: NM_000414.4(HSD17B4):c.1545C>A (p.His515Gln)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525257C>A , CM000667.2:g.119525257C>A GRCh38
NC_000005.9:g.118860952C>A , CM000667.1:g.118860952C>A GRCh37
NC_000005.8:g.118888851C>A NCBI36
NG_008182.1:g.77805C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1545C>A MANE Select NP_000405.1:p.His515Gln
ENST00000510025.7:c.1545C>A MANE Select ENSP00000424940.3:p.His515Gln
NM_000414.3:c.1545C>A NP_000405.1:p.His515Gln
NM_001199291.2:c.1620C>A NP_001186220.1:p.His540Gln
NM_001199291.3:c.1620C>A NP_001186220.1:p.His540Gln
NM_001199292.1:c.1491C>A NP_001186221.1:p.His497Gln
NM_001199292.2:c.1491C>A NP_001186221.1:p.His497Gln
NM_001292027.1:c.1473C>A NP_001278956.1:p.His491Gln
NM_001292027.2:c.1473C>A NP_001278956.1:p.His491Gln
NM_001292028.1:c.1125C>A NP_001278957.1:p.His375Gln
NM_001292028.2:c.1125C>A NP_001278957.1:p.His375Gln
NM_001374497.1:c.1536C>A NP_001361426.1:p.His512Gln
NM_001374498.1:c.1473C>A NP_001361427.1:p.His491Gln
NM_001374499.1:c.1218C>A NP_001361428.1:p.His406Gln
NM_001374500.1:c.1104C>A NP_001361429.1:p.His368Gln
NM_001374501.1:c.1134C>A NP_001361430.1:p.His378Gln
NM_001374502.1:c.1134C>A NP_001361431.1:p.His378Gln
NM_001374503.1:c.1134C>A NP_001361432.1:p.His378Gln
NR_164653.1:n.1642C>A
NR_164654.1:n.1910C>A
ENST00000256216.10:c.1545C>A ENSP00000256216.6:p.His515Gln
ENST00000414835.6:c.1125C>A ENSP00000411960.2:p.His375Gln
ENST00000414835.7:c.1620C>A ENSP00000411960.3:p.His540Gln
ENST00000442060.7:c.*107C>A ENSP00000390208.3:n.*107C>A
ENST00000504811.5:c.1620C>A ENSP00000420914.1:p.His540Gln
ENST00000509514.5:c.759C>A ENSP00000426272.1:p.His253Gln
ENST00000509514.6:c.1476C>A ENSP00000426272.2:p.His492Gln
ENST00000510025.5:c.1473C>A ENSP00000424940.1:p.His491Gln
ENST00000513628.5:c.1134C>A ENSP00000425993.1:p.His378Gln
ENST00000515235.6:n.3298C>A
ENST00000515320.5:c.1491C>A ENSP00000424613.1:p.His497Gln
ENST00000518349.5:n.679C>A
ENST00000518349.6:c.789C>A ENSP00000507185.1:p.His263Gln
ENST00000520244.5:n.328C>A
ENST00000520244.6:n.3283C>A
ENST00000522415.5:n.212C>A
ENST00000643250.1:c.*1417C>A ENSP00000494737.1:n.*1417C>A
ENST00000644146.1:c.*2816C>A ENSP00000494808.1:n.*2816C>A
ENST00000645099.1:c.1104C>A ENSP00000496091.1:p.His368Gln
ENST00000645702.1:c.*948C>A ENSP00000496432.1:n.*948C>A
ENST00000645832.1:c.*1430C>A ENSP00000494316.1:n.*1430C>A
ENST00000646058.1:c.1545C>A ENSP00000493579.1:p.His515Gln
ENST00000646355.1:c.*1551C>A ENSP00000493801.1:n.*1551C>A
ENST00000646554.1:c.*1523C>A ENSP00000494542.1:n.*1523C>A
ENST00000647335.1:c.*1512C>A ENSP00000495180.1:n.*1512C>A
ENST00000647342.1:c.*1476C>A ENSP00000494992.1:n.*1476C>A
ENST00000682445.1:c.*1426C>A ENSP00000508061.1:n.*1426C>A
ENST00000682531.1:n.3437C>A
ENST00000682626.1:c.*1051C>A ENSP00000507857.1:n.*1051C>A
ENST00000682996.1:c.1473C>A ENSP00000507792.1:p.His491Gln
ENST00000683265.1:n.3331C>A
ENST00000683335.1:n.2947C>A
ENST00000683371.1:c.*1675C>A ENSP00000508376.1:n.*1675C>A
ENST00000683372.1:n.3555C>A
ENST00000683390.1:n.3235C>A
ENST00000683476.1:n.387C>A
ENST00000683549.1:n.3159C>A
ENST00000683936.1:c.*3123C>A ENSP00000507721.1:n.*3123C>A
ENST00000683974.1:n.3274C>A
ENST00000683996.1:c.*755C>A ENSP00000507060.1:n.*755C>A
ENST00000684131.1:n.3077C>A
ENST00000684160.1:c.*1235C>A ENSP00000507821.1:n.*1235C>A
ENST00000684214.1:c.1545C>A ENSP00000508071.1:p.His515Gln