Canonical Allele Identifier: CA360861754

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 945823
• ClinVar RCV Id: RCV001216554
• dbSNP Id: rs1260517680
• MyVariant Identifiers: chr5:g.118788329G>C (hg19) ; chr5:g.119452634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452634G>C , CM000667.2:g.119452634G>C	GRCh38
NC_000005.9:g.118788329G>C , CM000667.1:g.118788329G>C	GRCh37
NC_000005.8:g.118816228G>C	NCBI36
NG_008182.1:g.5182G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.58+1G>C	ENSP00000426272.2:n.58+1G>C
ENST00000512841.6:n.99+1G>C
ENST00000518349.6:c.58+1G>C	ENSP00000507185.1:n.58+1G>C
ENST00000682445.1:c.58+1G>C	ENSP00000508061.1:n.58+1G>C
ENST00000682996.1:c.58+1G>C	ENSP00000507792.1:n.58+1G>C
ENST00000683371.1:c.58+1G>C	ENSP00000508376.1:n.58+1G>C
ENST00000683390.1:n.106+1G>C
ENST00000683936.1:c.58+1G>C	ENSP00000507721.1:n.58+1G>C
ENST00000683974.1:n.140+1G>C
ENST00000684214.1:c.58+1G>C	ENSP00000508071.1:n.58+1G>C
ENST00000414835.7:c.-120G>C	ENSP00000411960.3:n.-120G>C
ENST00000510025.7:c.58+1G>C MANE Select	ENSP00000424940.3:n.58+1G>C
ENST00000644146.1:c.58+1G>C	ENSP00000494808.1:n.58+1G>C
ENST00000645832.1:c.58+1G>C	ENSP00000494316.1:n.58+1G>C
ENST00000646058.1:c.58+1G>C	ENSP00000493579.1:n.58+1G>C
ENST00000646590.1:c.58+1G>C	ENSP00000494892.1:n.58+1G>C
ENST00000256216.10:c.58+1G>C	ENSP00000256216.6:n.58+1G>C
ENST00000442060.7:c.58+1G>C	ENSP00000390208.3:n.58+1G>C
ENST00000504811.5:c.-120G>C	ENSP00000420914.1:n.-120G>C
ENST00000510025.5:c.-80+1G>C	ENSP00000424940.1:n.-80+1G>C
ENST00000511186.5:n.161+1G>C
ENST00000515235.6:n.118+1G>C
ENST00000515320.5:c.58+1G>C	ENSP00000424613.1:n.58+1G>C
ENST00000519184.5:n.69+1G>C
NM_000414.3:c.58+1G>C	NP_000405.1:n.58+1G>C
NM_001199291.2:c.-120G>C	NP_001186220.1:n.-120G>C
NM_001199292.1:c.58+1G>C	NP_001186221.1:n.58+1G>C
NM_001292027.1:c.-80+1G>C	NP_001278956.1:n.-80+1G>C
NM_001292028.1:c.-541G>C	NP_001278957.1:n.-541G>C
NM_000414.4:c.58+1G>C MANE Select	NP_000405.1:n.58+1G>C
NM_001199291.3:c.-120G>C	NP_001186220.1:n.-120G>C
NM_001199292.2:c.58+1G>C	NP_001186221.1:n.58+1G>C
NM_001292027.2:c.-80+1G>C	NP_001278956.1:n.-80+1G>C
NM_001292028.2:c.-541G>C	NP_001278957.1:n.-541G>C
NM_001374497.1:c.58+1G>C	NP_001361426.1:n.58+1G>C
NM_001374498.1:c.58+1G>C	NP_001361427.1:n.58+1G>C
NM_001374499.1:c.-475G>C	NP_001361428.1:n.-475G>C
NM_001374500.1:c.-668G>C	NP_001361429.1:n.-668G>C
NM_001374501.1:c.-541G>C	NP_001361430.1:n.-541G>C
NM_001374502.1:c.-546G>C	NP_001361431.1:n.-546G>C
NM_001374503.1:c.-611G>C	NP_001361432.1:n.-611G>C
NR_164653.1:n.137+1G>C
NR_164654.1:n.138G>C