Canonical Allele Identifier: CA360868903

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119514988-T-C
• MyVariant Identifiers: chr5:g.118850683T>C (hg19) ; chr5:g.119514988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514988T>C , CM000667.2:g.119514988T>C	GRCh38
NC_000005.9:g.118850683T>C , CM000667.1:g.118850683T>C	GRCh37
NC_000005.8:g.118878582T>C	NCBI36
NG_008182.1:g.67536T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1376T>C	ENSP00000426272.2:p.Val459Ala
ENST00000518349.6:c.689T>C	ENSP00000507185.1:p.Val230Ala
ENST00000520244.6:n.3183T>C
ENST00000682445.1:c.*1326T>C	ENSP00000508061.1:n.*1326T>C
ENST00000682531.1:n.3337T>C
ENST00000682626.1:c.*951T>C	ENSP00000507857.1:n.*951T>C
ENST00000682996.1:c.1373T>C	ENSP00000507792.1:p.Val458Ala
ENST00000683265.1:n.3231T>C
ENST00000683335.1:n.2847T>C
ENST00000683371.1:c.*1575T>C	ENSP00000508376.1:n.*1575T>C
ENST00000683372.1:n.3455T>C
ENST00000683390.1:n.3135T>C
ENST00000683549.1:n.3059T>C
ENST00000683936.1:c.*3023T>C	ENSP00000507721.1:n.*3023T>C
ENST00000683974.1:n.3213-39T>C
ENST00000683996.1:c.*655T>C	ENSP00000507060.1:n.*655T>C
ENST00000684131.1:n.2977T>C
ENST00000684160.1:c.*1135T>C	ENSP00000507821.1:n.*1135T>C
ENST00000684214.1:c.1445T>C	ENSP00000508071.1:p.Val482Ala
ENST00000414835.7:c.1520T>C	ENSP00000411960.3:p.Val507Ala
ENST00000510025.7:c.1445T>C MANE Select	ENSP00000424940.3:p.Val482Ala
ENST00000643250.1:c.*1317T>C	ENSP00000494737.1:n.*1317T>C
ENST00000644146.1:c.*2716T>C	ENSP00000494808.1:n.*2716T>C
ENST00000645099.1:c.1004T>C	ENSP00000496091.1:p.Val335Ala
ENST00000645702.1:c.*848T>C	ENSP00000496432.1:n.*848T>C
ENST00000645832.1:c.*1330T>C	ENSP00000494316.1:n.*1330T>C
ENST00000646058.1:c.1445T>C	ENSP00000493579.1:p.Val482Ala
ENST00000646355.1:c.*1451T>C	ENSP00000493801.1:n.*1451T>C
ENST00000646554.1:c.*1423T>C	ENSP00000494542.1:n.*1423T>C
ENST00000647335.1:c.*1412T>C	ENSP00000495180.1:n.*1412T>C
ENST00000647342.1:c.*1376T>C	ENSP00000494992.1:n.*1376T>C
ENST00000256216.10:c.1445T>C	ENSP00000256216.6:p.Val482Ala
ENST00000414835.6:c.1025T>C	ENSP00000411960.2:p.Val342Ala
ENST00000442060.7:c.*7T>C	ENSP00000390208.3:n.*7T>C
ENST00000504811.5:c.1520T>C	ENSP00000420914.1:p.Val507Ala
ENST00000509514.5:c.659T>C	ENSP00000426272.1:p.Val220Ala
ENST00000510025.5:c.1373T>C	ENSP00000424940.1:p.Val458Ala
ENST00000513628.5:c.1034T>C	ENSP00000425993.1:p.Val345Ala
ENST00000515235.6:n.3198T>C
ENST00000515320.5:c.1391T>C	ENSP00000424613.1:p.Val464Ala
ENST00000518349.5:n.579T>C
ENST00000520244.5:n.228T>C
ENST00000522415.5:n.112T>C
NM_000414.3:c.1445T>C	NP_000405.1:p.Val482Ala
NM_001199291.2:c.1520T>C	NP_001186220.1:p.Val507Ala
NM_001199292.1:c.1391T>C	NP_001186221.1:p.Val464Ala
NM_001292027.1:c.1373T>C	NP_001278956.1:p.Val458Ala
NM_001292028.1:c.1025T>C	NP_001278957.1:p.Val342Ala
NM_000414.4:c.1445T>C MANE Select	NP_000405.1:p.Val482Ala
NM_001199291.3:c.1520T>C	NP_001186220.1:p.Val507Ala
NM_001199292.2:c.1391T>C	NP_001186221.1:p.Val464Ala
NM_001292027.2:c.1373T>C	NP_001278956.1:p.Val458Ala
NM_001292028.2:c.1025T>C	NP_001278957.1:p.Val342Ala
NM_001374497.1:c.1436T>C	NP_001361426.1:p.Val479Ala
NM_001374498.1:c.1373T>C	NP_001361427.1:p.Val458Ala
NM_001374499.1:c.1118T>C	NP_001361428.1:p.Val373Ala
NM_001374500.1:c.1004T>C	NP_001361429.1:p.Val335Ala
NM_001374501.1:c.1034T>C	NP_001361430.1:p.Val345Ala
NM_001374502.1:c.1034T>C	NP_001361431.1:p.Val345Ala
NM_001374503.1:c.1034T>C	NP_001361432.1:p.Val345Ala
NR_164653.1:n.1542T>C
NR_164654.1:n.1810T>C