Canonical Allele Identifier: CA446041512

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748856236
• gnomAD v4: 5-119478939-T-C
• MyVariant Identifiers: chr5:g.118814634T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478939T>C , CM000667.2:g.119478939T>C	GRCh38
NC_000005.9:g.118814634T>C , CM000667.1:g.118814634T>C	GRCh37
NC_000005.8:g.118842533T>C	NCBI36
NG_008182.1:g.31487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.540T>C	ENSP00000426272.2:p.Ile180=
ENST00000518349.6:c.113-17604T>C	ENSP00000507185.1:n.113-17604T>C
ENST00000682445.1:c.*421T>C	ENSP00000508061.1:n.*421T>C
ENST00000682531.1:n.641T>C
ENST00000682626.1:c.*46T>C	ENSP00000507857.1:n.*46T>C
ENST00000682996.1:c.540T>C	ENSP00000507792.1:p.Ile180=
ENST00000683265.1:n.633T>C
ENST00000683371.1:c.*670T>C	ENSP00000508376.1:n.*670T>C
ENST00000683390.1:n.2230T>C
ENST00000683549.1:n.461T>C
ENST00000683936.1:c.*425T>C	ENSP00000507721.1:n.*425T>C
ENST00000683974.1:n.622T>C
ENST00000683996.1:c.129T>C	ENSP00000507060.1:p.Ile43=
ENST00000684131.1:n.379T>C
ENST00000684160.1:c.*230T>C	ENSP00000507821.1:n.*230T>C
ENST00000684214.1:c.540T>C	ENSP00000508071.1:p.Ile180=
ENST00000414835.7:c.615T>C	ENSP00000411960.3:p.Ile205=
ENST00000510025.7:c.540T>C MANE Select	ENSP00000424940.3:p.Ile180=
ENST00000643250.1:c.*412T>C	ENSP00000494737.1:n.*412T>C
ENST00000644146.1:c.*118T>C	ENSP00000494808.1:n.*118T>C
ENST00000645099.1:c.99T>C	ENSP00000496091.1:p.Ile33=
ENST00000645702.1:c.129T>C	ENSP00000496432.1:p.Ile43=
ENST00000645832.1:c.*425T>C	ENSP00000494316.1:n.*425T>C
ENST00000646058.1:c.540T>C	ENSP00000493579.1:p.Ile180=
ENST00000646355.1:c.*546T>C	ENSP00000493801.1:n.*546T>C
ENST00000646554.1:c.*518T>C	ENSP00000494542.1:n.*518T>C
ENST00000647335.1:c.*507T>C	ENSP00000495180.1:n.*507T>C
ENST00000647342.1:c.*471T>C	ENSP00000494992.1:n.*471T>C
ENST00000256216.10:c.540T>C	ENSP00000256216.6:p.Ile180=
ENST00000414835.6:c.120T>C	ENSP00000411960.2:p.Ile40=
ENST00000442060.7:c.540T>C	ENSP00000390208.3:p.Ile180=
ENST00000503168.5:n.529T>C
ENST00000504811.5:c.615T>C	ENSP00000420914.1:p.Ile205=
ENST00000505181.5:n.243T>C
ENST00000508788.5:n.442T>C
ENST00000509514.5:c.-345T>C	ENSP00000426272.1:n.-345T>C
ENST00000510025.5:c.468T>C	ENSP00000424940.1:p.Ile156=
ENST00000512644.1:n.108T>C
ENST00000513628.5:c.129T>C	ENSP00000425993.1:p.Ile43=
ENST00000515235.6:n.600T>C
ENST00000515320.5:c.486T>C	ENSP00000424613.1:p.Ile162=
NM_000414.3:c.540T>C	NP_000405.1:p.Ile180=
NM_001199291.2:c.615T>C	NP_001186220.1:p.Ile205=
NM_001199292.1:c.486T>C	NP_001186221.1:p.Ile162=
NM_001292027.1:c.468T>C	NP_001278956.1:p.Ile156=
NM_001292028.1:c.120T>C	NP_001278957.1:p.Ile40=
NM_000414.4:c.540T>C MANE Select	NP_000405.1:p.Ile180=
NM_001199291.3:c.615T>C	NP_001186220.1:p.Ile205=
NM_001199292.2:c.486T>C	NP_001186221.1:p.Ile162=
NM_001292027.2:c.468T>C	NP_001278956.1:p.Ile156=
NM_001292028.2:c.120T>C	NP_001278957.1:p.Ile40=
NM_001374497.1:c.531T>C	NP_001361426.1:p.Ile177=
NM_001374498.1:c.540T>C	NP_001361427.1:p.Ile180=
NM_001374499.1:c.213T>C	NP_001361428.1:p.Ile71=
NM_001374500.1:c.99T>C	NP_001361429.1:p.Ile33=
NM_001374501.1:c.129T>C	NP_001361430.1:p.Ile43=
NM_001374502.1:c.129T>C	NP_001361431.1:p.Ile43=
NM_001374503.1:c.129T>C	NP_001361432.1:p.Ile43=
NR_164653.1:n.619T>C
NR_164654.1:n.807T>C