Canonical Allele Identifier: CA2674982613

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119515054-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515054T>C , CM000667.2:g.119515054T>C	GRCh38
NC_000005.9:g.118850749T>C , CM000667.1:g.118850749T>C	GRCh37
NC_000005.8:g.118878648T>C	NCBI36
NG_008182.1:g.67602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1434+8T>C	ENSP00000426272.2:n.1434+8T>C
ENST00000518349.6:c.747+8T>C	ENSP00000507185.1:n.747+8T>C
ENST00000520244.6:n.3241+8T>C
ENST00000682445.1:c.*1384+8T>C	ENSP00000508061.1:n.*1384+8T>C
ENST00000682531.1:n.3395+8T>C
ENST00000682626.1:c.*1009+8T>C	ENSP00000507857.1:n.*1009+8T>C
ENST00000682996.1:c.1431+8T>C	ENSP00000507792.1:n.1431+8T>C
ENST00000683265.1:n.3289+8T>C
ENST00000683335.1:n.2905+8T>C
ENST00000683371.1:c.*1633+8T>C	ENSP00000508376.1:n.*1633+8T>C
ENST00000683372.1:n.3513+8T>C
ENST00000683390.1:n.3193+8T>C
ENST00000683549.1:n.3117+8T>C
ENST00000683936.1:c.*3081+8T>C	ENSP00000507721.1:n.*3081+8T>C
ENST00000683974.1:n.3232+8T>C
ENST00000683996.1:c.*713+8T>C	ENSP00000507060.1:n.*713+8T>C
ENST00000684131.1:n.3035+8T>C
ENST00000684160.1:c.*1193+8T>C	ENSP00000507821.1:n.*1193+8T>C
ENST00000684214.1:c.1503+8T>C	ENSP00000508071.1:n.1503+8T>C
ENST00000414835.7:c.1578+8T>C	ENSP00000411960.3:n.1578+8T>C
ENST00000510025.7:c.1503+8T>C MANE Select	ENSP00000424940.3:n.1503+8T>C
ENST00000643250.1:c.*1375+8T>C	ENSP00000494737.1:n.*1375+8T>C
ENST00000644146.1:c.*2774+8T>C	ENSP00000494808.1:n.*2774+8T>C
ENST00000645099.1:c.1062+8T>C	ENSP00000496091.1:n.1062+8T>C
ENST00000645702.1:c.*906+8T>C	ENSP00000496432.1:n.*906+8T>C
ENST00000645832.1:c.*1388+8T>C	ENSP00000494316.1:n.*1388+8T>C
ENST00000646058.1:c.1503+8T>C	ENSP00000493579.1:n.1503+8T>C
ENST00000646355.1:c.*1509+8T>C	ENSP00000493801.1:n.*1509+8T>C
ENST00000646554.1:c.*1481+8T>C	ENSP00000494542.1:n.*1481+8T>C
ENST00000647335.1:c.*1470+8T>C	ENSP00000495180.1:n.*1470+8T>C
ENST00000647342.1:c.*1434+8T>C	ENSP00000494992.1:n.*1434+8T>C
ENST00000256216.10:c.1503+8T>C	ENSP00000256216.6:n.1503+8T>C
ENST00000414835.6:c.1083+8T>C	ENSP00000411960.2:n.1083+8T>C
ENST00000442060.7:c.*65+8T>C	ENSP00000390208.3:n.*65+8T>C
ENST00000504811.5:c.1578+8T>C	ENSP00000420914.1:n.1578+8T>C
ENST00000509514.5:c.717+8T>C	ENSP00000426272.1:n.717+8T>C
ENST00000510025.5:c.1431+8T>C	ENSP00000424940.1:n.1431+8T>C
ENST00000513628.5:c.1092+8T>C	ENSP00000425993.1:n.1092+8T>C
ENST00000515235.6:n.3256+8T>C
ENST00000515320.5:c.1449+8T>C	ENSP00000424613.1:n.1449+8T>C
ENST00000518349.5:n.637+8T>C
ENST00000520244.5:n.286+8T>C
ENST00000522415.5:n.170+8T>C
NM_000414.3:c.1503+8T>C	NP_000405.1:n.1503+8T>C
NM_001199291.2:c.1578+8T>C	NP_001186220.1:n.1578+8T>C
NM_001199292.1:c.1449+8T>C	NP_001186221.1:n.1449+8T>C
NM_001292027.1:c.1431+8T>C	NP_001278956.1:n.1431+8T>C
NM_001292028.1:c.1083+8T>C	NP_001278957.1:n.1083+8T>C
NM_000414.4:c.1503+8T>C MANE Select	NP_000405.1:n.1503+8T>C
NM_001199291.3:c.1578+8T>C	NP_001186220.1:n.1578+8T>C
NM_001199292.2:c.1449+8T>C	NP_001186221.1:n.1449+8T>C
NM_001292027.2:c.1431+8T>C	NP_001278956.1:n.1431+8T>C
NM_001292028.2:c.1083+8T>C	NP_001278957.1:n.1083+8T>C
NM_001374497.1:c.1494+8T>C	NP_001361426.1:n.1494+8T>C
NM_001374498.1:c.1431+8T>C	NP_001361427.1:n.1431+8T>C
NM_001374499.1:c.1176+8T>C	NP_001361428.1:n.1176+8T>C
NM_001374500.1:c.1062+8T>C	NP_001361429.1:n.1062+8T>C
NM_001374501.1:c.1092+8T>C	NP_001361430.1:n.1092+8T>C
NM_001374502.1:c.1092+8T>C	NP_001361431.1:n.1092+8T>C
NM_001374503.1:c.1092+8T>C	NP_001361432.1:n.1092+8T>C
NR_164653.1:n.1600+8T>C
NR_164654.1:n.1868+8T>C