Canonical Allele Identifier: CA360871090

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531319-G-C
• MyVariant Identifiers: chr5:g.118867014G>C (hg19) ; chr5:g.119531319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531319G>C , CM000667.2:g.119531319G>C	GRCh38
NC_000005.9:g.118867014G>C , CM000667.1:g.118867014G>C	GRCh37
NC_000005.8:g.118894913G>C	NCBI36
NG_008182.1:g.83867G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1839G>C	ENSP00000426272.2:p.Lys613Asn
ENST00000518349.6:c.1152G>C	ENSP00000507185.1:p.Lys384Asn
ENST00000682445.1:c.*1789G>C	ENSP00000508061.1:n.*1789G>C
ENST00000682531.1:n.3800G>C
ENST00000682626.1:c.*1414G>C	ENSP00000507857.1:n.*1414G>C
ENST00000682996.1:c.1836G>C	ENSP00000507792.1:p.Lys612Asn
ENST00000683265.1:n.3694G>C
ENST00000683335.1:n.3310G>C
ENST00000683371.1:c.*2038G>C	ENSP00000508376.1:n.*2038G>C
ENST00000683372.1:n.3918G>C
ENST00000683390.1:n.3598G>C
ENST00000683476.1:n.750G>C
ENST00000683549.1:n.3522G>C
ENST00000683936.1:c.*3486G>C	ENSP00000507721.1:n.*3486G>C
ENST00000683974.1:n.3637G>C
ENST00000683996.1:c.*1118G>C	ENSP00000507060.1:n.*1118G>C
ENST00000684131.1:n.3440G>C
ENST00000684160.1:c.*1598G>C	ENSP00000507821.1:n.*1598G>C
ENST00000684214.1:c.1854+1339G>C	ENSP00000508071.1:n.1854+1339G>C
ENST00000414835.7:c.1983G>C	ENSP00000411960.3:p.Lys661Asn
ENST00000510025.7:c.1908G>C MANE Select	ENSP00000424940.3:p.Lys636Asn
ENST00000643250.1:c.*1780G>C	ENSP00000494737.1:n.*1780G>C
ENST00000644146.1:c.*3179G>C	ENSP00000494808.1:n.*3179G>C
ENST00000645099.1:c.1467G>C	ENSP00000496091.1:p.Lys489Asn
ENST00000645702.1:c.*1311G>C	ENSP00000496432.1:n.*1311G>C
ENST00000645832.1:c.*1793G>C	ENSP00000494316.1:n.*1793G>C
ENST00000646058.1:c.1908G>C	ENSP00000493579.1:p.Lys636Asn
ENST00000646355.1:c.*1914G>C	ENSP00000493801.1:n.*1914G>C
ENST00000646554.1:c.*1886G>C	ENSP00000494542.1:n.*1886G>C
ENST00000647335.1:c.*1875G>C	ENSP00000495180.1:n.*1875G>C
ENST00000647342.1:c.*1839G>C	ENSP00000494992.1:n.*1839G>C
ENST00000256216.10:c.1908G>C	ENSP00000256216.6:p.Lys636Asn
ENST00000414835.6:c.1488G>C	ENSP00000411960.2:p.Lys496Asn
ENST00000442060.7:c.*463G>C	ENSP00000390208.3:n.*463G>C
ENST00000504811.5:c.1983G>C	ENSP00000420914.1:p.Lys661Asn
ENST00000509514.5:c.1122G>C	ENSP00000426272.1:p.Lys374Asn
ENST00000509606.1:n.203G>C
ENST00000509951.5:n.309+1339G>C
ENST00000510025.5:c.1836G>C	ENSP00000424940.1:p.Lys612Asn
ENST00000513628.5:c.1497G>C	ENSP00000425993.1:p.Lys499Asn
ENST00000515235.6:n.3661G>C
ENST00000515320.5:c.1854G>C	ENSP00000424613.1:p.Lys618Asn
ENST00000522415.5:n.575G>C
NM_000414.3:c.1908G>C	NP_000405.1:p.Lys636Asn
NM_001199291.2:c.1983G>C	NP_001186220.1:p.Lys661Asn
NM_001199292.1:c.1854G>C	NP_001186221.1:p.Lys618Asn
NM_001292027.1:c.1836G>C	NP_001278956.1:p.Lys612Asn
NM_001292028.1:c.1488G>C	NP_001278957.1:p.Lys496Asn
NM_000414.4:c.1908G>C MANE Select	NP_000405.1:p.Lys636Asn
NM_001199291.3:c.1983G>C	NP_001186220.1:p.Lys661Asn
NM_001199292.2:c.1854G>C	NP_001186221.1:p.Lys618Asn
NM_001292027.2:c.1836G>C	NP_001278956.1:p.Lys612Asn
NM_001292028.2:c.1488G>C	NP_001278957.1:p.Lys496Asn
NM_001374497.1:c.1899G>C	NP_001361426.1:p.Lys633Asn
NM_001374498.1:c.1836G>C	NP_001361427.1:p.Lys612Asn
NM_001374499.1:c.1581G>C	NP_001361428.1:p.Lys527Asn
NM_001374500.1:c.1467G>C	NP_001361429.1:p.Lys489Asn
NM_001374501.1:c.1497G>C	NP_001361430.1:p.Lys499Asn
NM_001374502.1:c.1497G>C	NP_001361431.1:p.Lys499Asn
NM_001374503.1:c.1497G>C	NP_001361432.1:p.Lys499Asn
NR_164653.1:n.2005G>C
NR_164654.1:n.2273G>C