Canonical Allele Identifier: CA360871136

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531329-C-T
• MyVariant Identifiers: chr5:g.118867024C>T (hg19) ; chr5:g.119531329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531329C>T , CM000667.2:g.119531329C>T	GRCh38
NC_000005.9:g.118867024C>T , CM000667.1:g.118867024C>T	GRCh37
NC_000005.8:g.118894923C>T	NCBI36
NG_008182.1:g.83877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1849C>T	ENSP00000426272.2:p.Pro617Ser
ENST00000518349.6:c.1162C>T	ENSP00000507185.1:p.Pro388Ser
ENST00000682445.1:c.*1799C>T	ENSP00000508061.1:n.*1799C>T
ENST00000682531.1:n.3810C>T
ENST00000682626.1:c.*1424C>T	ENSP00000507857.1:n.*1424C>T
ENST00000682996.1:c.1846C>T	ENSP00000507792.1:p.Pro616Ser
ENST00000683265.1:n.3704C>T
ENST00000683335.1:n.3320C>T
ENST00000683371.1:c.*2048C>T	ENSP00000508376.1:n.*2048C>T
ENST00000683372.1:n.3928C>T
ENST00000683390.1:n.3608C>T
ENST00000683476.1:n.760C>T
ENST00000683549.1:n.3532C>T
ENST00000683936.1:c.*3496C>T	ENSP00000507721.1:n.*3496C>T
ENST00000683974.1:n.3647C>T
ENST00000683996.1:c.*1128C>T	ENSP00000507060.1:n.*1128C>T
ENST00000684131.1:n.3450C>T
ENST00000684160.1:c.*1608C>T	ENSP00000507821.1:n.*1608C>T
ENST00000684214.1:c.1854+1349C>T	ENSP00000508071.1:n.1854+1349C>T
ENST00000414835.7:c.1993C>T	ENSP00000411960.3:p.Pro665Ser
ENST00000510025.7:c.1918C>T MANE Select	ENSP00000424940.3:p.Pro640Ser
ENST00000643250.1:c.*1790C>T	ENSP00000494737.1:n.*1790C>T
ENST00000644146.1:c.*3189C>T	ENSP00000494808.1:n.*3189C>T
ENST00000645099.1:c.1477C>T	ENSP00000496091.1:p.Pro493Ser
ENST00000645702.1:c.*1321C>T	ENSP00000496432.1:n.*1321C>T
ENST00000645832.1:c.*1803C>T	ENSP00000494316.1:n.*1803C>T
ENST00000646058.1:c.1918C>T	ENSP00000493579.1:p.Pro640Ser
ENST00000646355.1:c.*1924C>T	ENSP00000493801.1:n.*1924C>T
ENST00000646554.1:c.*1896C>T	ENSP00000494542.1:n.*1896C>T
ENST00000647335.1:c.*1885C>T	ENSP00000495180.1:n.*1885C>T
ENST00000647342.1:c.*1849C>T	ENSP00000494992.1:n.*1849C>T
ENST00000256216.10:c.1918C>T	ENSP00000256216.6:p.Pro640Ser
ENST00000414835.6:c.1498C>T	ENSP00000411960.2:p.Pro500Ser
ENST00000442060.7:c.*473C>T	ENSP00000390208.3:n.*473C>T
ENST00000504811.5:c.1993C>T	ENSP00000420914.1:p.Pro665Ser
ENST00000509514.5:c.1132C>T	ENSP00000426272.1:p.Pro378Ser
ENST00000509606.1:n.213C>T
ENST00000509951.5:n.309+1349C>T
ENST00000510025.5:c.1846C>T	ENSP00000424940.1:p.Pro616Ser
ENST00000513628.5:c.1507C>T	ENSP00000425993.1:p.Pro503Ser
ENST00000515235.6:n.3671C>T
ENST00000515320.5:c.1864C>T	ENSP00000424613.1:p.Pro622Ser
ENST00000522415.5:n.585C>T
NM_000414.3:c.1918C>T	NP_000405.1:p.Pro640Ser
NM_001199291.2:c.1993C>T	NP_001186220.1:p.Pro665Ser
NM_001199292.1:c.1864C>T	NP_001186221.1:p.Pro622Ser
NM_001292027.1:c.1846C>T	NP_001278956.1:p.Pro616Ser
NM_001292028.1:c.1498C>T	NP_001278957.1:p.Pro500Ser
NM_000414.4:c.1918C>T MANE Select	NP_000405.1:p.Pro640Ser
NM_001199291.3:c.1993C>T	NP_001186220.1:p.Pro665Ser
NM_001199292.2:c.1864C>T	NP_001186221.1:p.Pro622Ser
NM_001292027.2:c.1846C>T	NP_001278956.1:p.Pro616Ser
NM_001292028.2:c.1498C>T	NP_001278957.1:p.Pro500Ser
NM_001374497.1:c.1909C>T	NP_001361426.1:p.Pro637Ser
NM_001374498.1:c.1846C>T	NP_001361427.1:p.Pro616Ser
NM_001374499.1:c.1591C>T	NP_001361428.1:p.Pro531Ser
NM_001374500.1:c.1477C>T	NP_001361429.1:p.Pro493Ser
NM_001374501.1:c.1507C>T	NP_001361430.1:p.Pro503Ser
NM_001374502.1:c.1507C>T	NP_001361431.1:p.Pro503Ser
NM_001374503.1:c.1507C>T	NP_001361432.1:p.Pro503Ser
NR_164653.1:n.2015C>T
NR_164654.1:n.2283C>T