Canonical Allele Identifier: CA360871141

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867025C>G (hg19) ; chr5:g.119531330C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531330C>G , CM000667.2:g.119531330C>G	GRCh38
NC_000005.9:g.118867025C>G , CM000667.1:g.118867025C>G	GRCh37
NC_000005.8:g.118894924C>G	NCBI36
NG_008182.1:g.83878C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1850C>G	ENSP00000426272.2:p.Pro617Arg
ENST00000518349.6:c.1163C>G	ENSP00000507185.1:p.Pro388Arg
ENST00000682445.1:c.*1800C>G	ENSP00000508061.1:n.*1800C>G
ENST00000682531.1:n.3811C>G
ENST00000682626.1:c.*1425C>G	ENSP00000507857.1:n.*1425C>G
ENST00000682996.1:c.1847C>G	ENSP00000507792.1:p.Pro616Arg
ENST00000683265.1:n.3705C>G
ENST00000683335.1:n.3321C>G
ENST00000683371.1:c.*2049C>G	ENSP00000508376.1:n.*2049C>G
ENST00000683372.1:n.3929C>G
ENST00000683390.1:n.3609C>G
ENST00000683476.1:n.761C>G
ENST00000683549.1:n.3533C>G
ENST00000683936.1:c.*3497C>G	ENSP00000507721.1:n.*3497C>G
ENST00000683974.1:n.3648C>G
ENST00000683996.1:c.*1129C>G	ENSP00000507060.1:n.*1129C>G
ENST00000684131.1:n.3451C>G
ENST00000684160.1:c.*1609C>G	ENSP00000507821.1:n.*1609C>G
ENST00000684214.1:c.1854+1350C>G	ENSP00000508071.1:n.1854+1350C>G
ENST00000414835.7:c.1994C>G	ENSP00000411960.3:p.Pro665Arg
ENST00000510025.7:c.1919C>G MANE Select	ENSP00000424940.3:p.Pro640Arg
ENST00000643250.1:c.*1791C>G	ENSP00000494737.1:n.*1791C>G
ENST00000644146.1:c.*3190C>G	ENSP00000494808.1:n.*3190C>G
ENST00000645099.1:c.1478C>G	ENSP00000496091.1:p.Pro493Arg
ENST00000645702.1:c.*1322C>G	ENSP00000496432.1:n.*1322C>G
ENST00000645832.1:c.*1804C>G	ENSP00000494316.1:n.*1804C>G
ENST00000646058.1:c.1919C>G	ENSP00000493579.1:p.Pro640Arg
ENST00000646355.1:c.*1925C>G	ENSP00000493801.1:n.*1925C>G
ENST00000646554.1:c.*1897C>G	ENSP00000494542.1:n.*1897C>G
ENST00000647335.1:c.*1886C>G	ENSP00000495180.1:n.*1886C>G
ENST00000647342.1:c.*1850C>G	ENSP00000494992.1:n.*1850C>G
ENST00000256216.10:c.1919C>G	ENSP00000256216.6:p.Pro640Arg
ENST00000414835.6:c.1499C>G	ENSP00000411960.2:p.Pro500Arg
ENST00000442060.7:c.*474C>G	ENSP00000390208.3:n.*474C>G
ENST00000504811.5:c.1994C>G	ENSP00000420914.1:p.Pro665Arg
ENST00000509514.5:c.1133C>G	ENSP00000426272.1:p.Pro378Arg
ENST00000509606.1:n.214C>G
ENST00000509951.5:n.309+1350C>G
ENST00000510025.5:c.1847C>G	ENSP00000424940.1:p.Pro616Arg
ENST00000513628.5:c.1508C>G	ENSP00000425993.1:p.Pro503Arg
ENST00000515235.6:n.3672C>G
ENST00000515320.5:c.1865C>G	ENSP00000424613.1:p.Pro622Arg
ENST00000522415.5:n.586C>G
NM_000414.3:c.1919C>G	NP_000405.1:p.Pro640Arg
NM_001199291.2:c.1994C>G	NP_001186220.1:p.Pro665Arg
NM_001199292.1:c.1865C>G	NP_001186221.1:p.Pro622Arg
NM_001292027.1:c.1847C>G	NP_001278956.1:p.Pro616Arg
NM_001292028.1:c.1499C>G	NP_001278957.1:p.Pro500Arg
NM_000414.4:c.1919C>G MANE Select	NP_000405.1:p.Pro640Arg
NM_001199291.3:c.1994C>G	NP_001186220.1:p.Pro665Arg
NM_001199292.2:c.1865C>G	NP_001186221.1:p.Pro622Arg
NM_001292027.2:c.1847C>G	NP_001278956.1:p.Pro616Arg
NM_001292028.2:c.1499C>G	NP_001278957.1:p.Pro500Arg
NM_001374497.1:c.1910C>G	NP_001361426.1:p.Pro637Arg
NM_001374498.1:c.1847C>G	NP_001361427.1:p.Pro616Arg
NM_001374499.1:c.1592C>G	NP_001361428.1:p.Pro531Arg
NM_001374500.1:c.1478C>G	NP_001361429.1:p.Pro493Arg
NM_001374501.1:c.1508C>G	NP_001361430.1:p.Pro503Arg
NM_001374502.1:c.1508C>G	NP_001361431.1:p.Pro503Arg
NM_001374503.1:c.1508C>G	NP_001361432.1:p.Pro503Arg
NR_164653.1:n.2016C>G
NR_164654.1:n.2284C>G