Canonical Allele Identifier: CA360868649
Community Standard Title: NM_000414.4(HSD17B4):c.1333+1G>C
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119506890G>C , CM000667.2:g.119506890G>C GRCh38
NC_000005.9:g.118842585G>C , CM000667.1:g.118842585G>C GRCh37
NC_000005.8:g.118870484G>C NCBI36
NG_008182.1:g.59438G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1333+1G>C MANE Select NP_000405.1:n.1333+1G>C
ENST00000510025.7:c.1333+1G>C MANE Select ENSP00000424940.3:n.1333+1G>C
NM_000414.3:c.1333+1G>C NP_000405.1:n.1333+1G>C
NM_001199291.2:c.1408+1G>C NP_001186220.1:n.1408+1G>C
NM_001199291.3:c.1408+1G>C NP_001186220.1:n.1408+1G>C
NM_001199292.1:c.1279+1G>C NP_001186221.1:n.1279+1G>C
NM_001199292.2:c.1279+1G>C NP_001186221.1:n.1279+1G>C
NM_001292027.1:c.1261+1G>C NP_001278956.1:n.1261+1G>C
NM_001292027.2:c.1261+1G>C NP_001278956.1:n.1261+1G>C
NM_001292028.1:c.913+1G>C NP_001278957.1:n.913+1G>C
NM_001292028.2:c.913+1G>C NP_001278957.1:n.913+1G>C
NM_001374497.1:c.1324+1G>C NP_001361426.1:n.1324+1G>C
NM_001374498.1:c.1262-2251G>C NP_001361427.1:n.1262-2251G>C
NM_001374499.1:c.1006+1G>C NP_001361428.1:n.1006+1G>C
NM_001374500.1:c.892+1G>C NP_001361429.1:n.892+1G>C
NM_001374501.1:c.922+1G>C NP_001361430.1:n.922+1G>C
NM_001374502.1:c.922+1G>C NP_001361431.1:n.922+1G>C
NM_001374503.1:c.922+1G>C NP_001361432.1:n.922+1G>C
NR_164653.1:n.1430+1G>C
NR_164654.1:n.1698+1G>C
ENST00000256216.10:c.1333+1G>C ENSP00000256216.6:n.1333+1G>C
ENST00000414835.6:c.913+1G>C ENSP00000411960.2:n.913+1G>C
ENST00000414835.7:c.1408+1G>C ENSP00000411960.3:n.1408+1G>C
ENST00000442060.7:c.1333+1G>C ENSP00000390208.3:n.1333+1G>C
ENST00000504811.5:c.1408+1G>C ENSP00000420914.1:n.1408+1G>C
ENST00000509514.5:c.547+1G>C ENSP00000426272.1:n.547+1G>C
ENST00000509514.6:c.1333+1G>C ENSP00000426272.2:n.1333+1G>C
ENST00000510025.5:c.1261+1G>C ENSP00000424940.1:n.1261+1G>C
ENST00000513628.5:c.922+1G>C ENSP00000425993.1:n.922+1G>C
ENST00000515235.6:n.3086+1G>C
ENST00000515320.5:c.1279+1G>C ENSP00000424613.1:n.1279+1G>C
ENST00000518349.5:n.467+1G>C
ENST00000518349.6:c.577+1G>C ENSP00000507185.1:n.577+1G>C
ENST00000520244.5:n.116+1G>C
ENST00000643250.1:c.*1205+1G>C ENSP00000494737.1:n.*1205+1G>C
ENST00000644146.1:c.*2604+1G>C ENSP00000494808.1:n.*2604+1G>C
ENST00000645099.1:c.892+1G>C ENSP00000496091.1:n.892+1G>C
ENST00000645702.1:c.*736+1G>C ENSP00000496432.1:n.*736+1G>C
ENST00000645832.1:c.*1218+1G>C ENSP00000494316.1:n.*1218+1G>C
ENST00000646058.1:c.1333+1G>C ENSP00000493579.1:n.1333+1G>C
ENST00000646355.1:c.*1339+1G>C ENSP00000493801.1:n.*1339+1G>C
ENST00000646554.1:c.*1311+1G>C ENSP00000494542.1:n.*1311+1G>C
ENST00000647335.1:c.*1300+1G>C ENSP00000495180.1:n.*1300+1G>C
ENST00000647342.1:c.*1264+1G>C ENSP00000494992.1:n.*1264+1G>C
ENST00000682445.1:c.*1214+1G>C ENSP00000508061.1:n.*1214+1G>C
ENST00000682531.1:n.3225+1G>C
ENST00000682626.1:c.*839+1G>C ENSP00000507857.1:n.*839+1G>C
ENST00000682996.1:c.1262-2251G>C ENSP00000507792.1:n.1262-2251G>C
ENST00000683265.1:n.3119+1G>C
ENST00000683371.1:c.*1463+1G>C ENSP00000508376.1:n.*1463+1G>C
ENST00000683372.1:n.3343+1G>C
ENST00000683390.1:n.3023+1G>C
ENST00000683549.1:n.2947+1G>C
ENST00000683936.1:c.*2911+1G>C ENSP00000507721.1:n.*2911+1G>C
ENST00000683974.1:n.3108+1G>C
ENST00000683996.1:c.*543+1G>C ENSP00000507060.1:n.*543+1G>C
ENST00000684131.1:n.2865+1G>C
ENST00000684160.1:c.*1023+1G>C ENSP00000507821.1:n.*1023+1G>C
ENST00000684214.1:c.1333+1G>C ENSP00000508071.1:n.1333+1G>C