Canonical Allele Identifier: CA2674983675

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531429-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531429A>C , CM000667.2:g.119531429A>C	GRCh38
NC_000005.9:g.118867124A>C , CM000667.1:g.118867124A>C	GRCh37
NC_000005.8:g.118895023A>C	NCBI36
NG_008182.1:g.83977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1924+25A>C	ENSP00000426272.2:n.1924+25A>C
ENST00000518349.6:c.1237+25A>C	ENSP00000507185.1:n.1237+25A>C
ENST00000682445.1:c.*1874+25A>C	ENSP00000508061.1:n.*1874+25A>C
ENST00000682531.1:n.3885+25A>C
ENST00000682626.1:c.*1499+25A>C	ENSP00000507857.1:n.*1499+25A>C
ENST00000682996.1:c.1921+25A>C	ENSP00000507792.1:n.1921+25A>C
ENST00000683265.1:n.3779+25A>C
ENST00000683335.1:n.3395+25A>C
ENST00000683371.1:c.*2123+25A>C	ENSP00000508376.1:n.*2123+25A>C
ENST00000683372.1:n.4003+25A>C
ENST00000683390.1:n.3708A>C
ENST00000683476.1:n.835+25A>C
ENST00000683549.1:n.3607+25A>C
ENST00000683936.1:c.*3571+25A>C	ENSP00000507721.1:n.*3571+25A>C
ENST00000683974.1:n.3722+25A>C
ENST00000683996.1:c.*1203+25A>C	ENSP00000507060.1:n.*1203+25A>C
ENST00000684131.1:n.3525+25A>C
ENST00000684160.1:c.*1683+25A>C	ENSP00000507821.1:n.*1683+25A>C
ENST00000684214.1:c.1854+1449A>C	ENSP00000508071.1:n.1854+1449A>C
ENST00000414835.7:c.2068+25A>C	ENSP00000411960.3:n.2068+25A>C
ENST00000510025.7:c.1993+25A>C MANE Select	ENSP00000424940.3:n.1993+25A>C
ENST00000643250.1:c.*1865+25A>C	ENSP00000494737.1:n.*1865+25A>C
ENST00000644146.1:c.*3264+25A>C	ENSP00000494808.1:n.*3264+25A>C
ENST00000645099.1:c.1552+25A>C	ENSP00000496091.1:n.1552+25A>C
ENST00000645702.1:c.*1396+25A>C	ENSP00000496432.1:n.*1396+25A>C
ENST00000645832.1:c.*1878+25A>C	ENSP00000494316.1:n.*1878+25A>C
ENST00000646058.1:c.1993+25A>C	ENSP00000493579.1:n.1993+25A>C
ENST00000646355.1:c.*1999+25A>C	ENSP00000493801.1:n.*1999+25A>C
ENST00000646554.1:c.*1971+25A>C	ENSP00000494542.1:n.*1971+25A>C
ENST00000647335.1:c.*1960+25A>C	ENSP00000495180.1:n.*1960+25A>C
ENST00000647342.1:c.*1924+25A>C	ENSP00000494992.1:n.*1924+25A>C
ENST00000256216.10:c.1993+25A>C	ENSP00000256216.6:n.1993+25A>C
ENST00000414835.6:c.1573+25A>C	ENSP00000411960.2:n.1573+25A>C
ENST00000442060.7:c.*548+25A>C	ENSP00000390208.3:n.*548+25A>C
ENST00000504811.5:c.2068+25A>C	ENSP00000420914.1:n.2068+25A>C
ENST00000509514.5:c.1207+25A>C	ENSP00000426272.1:n.1207+25A>C
ENST00000509606.1:n.288+25A>C
ENST00000509951.5:n.309+1449A>C
ENST00000510025.5:c.1921+25A>C	ENSP00000424940.1:n.1921+25A>C
ENST00000513628.5:c.1582+25A>C	ENSP00000425993.1:n.1582+25A>C
ENST00000515235.6:n.3746+25A>C
ENST00000515320.5:c.1939+25A>C	ENSP00000424613.1:n.1939+25A>C
ENST00000522415.5:n.660+25A>C
NM_000414.3:c.1993+25A>C	NP_000405.1:n.1993+25A>C
NM_001199291.2:c.2068+25A>C	NP_001186220.1:n.2068+25A>C
NM_001199292.1:c.1939+25A>C	NP_001186221.1:n.1939+25A>C
NM_001292027.1:c.1921+25A>C	NP_001278956.1:n.1921+25A>C
NM_001292028.1:c.1573+25A>C	NP_001278957.1:n.1573+25A>C
NM_000414.4:c.1993+25A>C MANE Select	NP_000405.1:n.1993+25A>C
NM_001199291.3:c.2068+25A>C	NP_001186220.1:n.2068+25A>C
NM_001199292.2:c.1939+25A>C	NP_001186221.1:n.1939+25A>C
NM_001292027.2:c.1921+25A>C	NP_001278956.1:n.1921+25A>C
NM_001292028.2:c.1573+25A>C	NP_001278957.1:n.1573+25A>C
NM_001374497.1:c.1984+25A>C	NP_001361426.1:n.1984+25A>C
NM_001374498.1:c.1921+25A>C	NP_001361427.1:n.1921+25A>C
NM_001374499.1:c.1666+25A>C	NP_001361428.1:n.1666+25A>C
NM_001374500.1:c.1552+25A>C	NP_001361429.1:n.1552+25A>C
NM_001374501.1:c.1582+25A>C	NP_001361430.1:n.1582+25A>C
NM_001374502.1:c.1582+25A>C	NP_001361431.1:n.1582+25A>C
NM_001374503.1:c.1582+25A>C	NP_001361432.1:n.1582+25A>C
NR_164653.1:n.2090+25A>C
NR_164654.1:n.2358+25A>C