Canonical Allele Identifier: CA446051923

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1752484774
• gnomAD v4: 5-119514986-T-C
• MyVariant Identifiers: chr5:g.118850681T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514986T>C , CM000667.2:g.119514986T>C	GRCh38
NC_000005.9:g.118850681T>C , CM000667.1:g.118850681T>C	GRCh37
NC_000005.8:g.118878580T>C	NCBI36
NG_008182.1:g.67534T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1374T>C	ENSP00000426272.2:p.Ala458=
ENST00000518349.6:c.687T>C	ENSP00000507185.1:p.Ala229=
ENST00000520244.6:n.3181T>C
ENST00000682445.1:c.*1324T>C	ENSP00000508061.1:n.*1324T>C
ENST00000682531.1:n.3335T>C
ENST00000682626.1:c.*949T>C	ENSP00000507857.1:n.*949T>C
ENST00000682996.1:c.1371T>C	ENSP00000507792.1:p.Ala457=
ENST00000683265.1:n.3229T>C
ENST00000683335.1:n.2845T>C
ENST00000683371.1:c.*1573T>C	ENSP00000508376.1:n.*1573T>C
ENST00000683372.1:n.3453T>C
ENST00000683390.1:n.3133T>C
ENST00000683549.1:n.3057T>C
ENST00000683936.1:c.*3021T>C	ENSP00000507721.1:n.*3021T>C
ENST00000683974.1:n.3213-41T>C
ENST00000683996.1:c.*653T>C	ENSP00000507060.1:n.*653T>C
ENST00000684131.1:n.2975T>C
ENST00000684160.1:c.*1133T>C	ENSP00000507821.1:n.*1133T>C
ENST00000684214.1:c.1443T>C	ENSP00000508071.1:p.Ala481=
ENST00000414835.7:c.1518T>C	ENSP00000411960.3:p.Ala506=
ENST00000510025.7:c.1443T>C MANE Select	ENSP00000424940.3:p.Ala481=
ENST00000643250.1:c.*1315T>C	ENSP00000494737.1:n.*1315T>C
ENST00000644146.1:c.*2714T>C	ENSP00000494808.1:n.*2714T>C
ENST00000645099.1:c.1002T>C	ENSP00000496091.1:p.Ala334=
ENST00000645702.1:c.*846T>C	ENSP00000496432.1:n.*846T>C
ENST00000645832.1:c.*1328T>C	ENSP00000494316.1:n.*1328T>C
ENST00000646058.1:c.1443T>C	ENSP00000493579.1:p.Ala481=
ENST00000646355.1:c.*1449T>C	ENSP00000493801.1:n.*1449T>C
ENST00000646554.1:c.*1421T>C	ENSP00000494542.1:n.*1421T>C
ENST00000647335.1:c.*1410T>C	ENSP00000495180.1:n.*1410T>C
ENST00000647342.1:c.*1374T>C	ENSP00000494992.1:n.*1374T>C
ENST00000256216.10:c.1443T>C	ENSP00000256216.6:p.Ala481=
ENST00000414835.6:c.1023T>C	ENSP00000411960.2:p.Ala341=
ENST00000442060.7:c.*5T>C	ENSP00000390208.3:n.*5T>C
ENST00000504811.5:c.1518T>C	ENSP00000420914.1:p.Ala506=
ENST00000509514.5:c.657T>C	ENSP00000426272.1:p.Ala219=
ENST00000510025.5:c.1371T>C	ENSP00000424940.1:p.Ala457=
ENST00000513628.5:c.1032T>C	ENSP00000425993.1:p.Ala344=
ENST00000515235.6:n.3196T>C
ENST00000515320.5:c.1389T>C	ENSP00000424613.1:p.Ala463=
ENST00000518349.5:n.577T>C
ENST00000520244.5:n.226T>C
ENST00000522415.5:n.110T>C
NM_000414.3:c.1443T>C	NP_000405.1:p.Ala481=
NM_001199291.2:c.1518T>C	NP_001186220.1:p.Ala506=
NM_001199292.1:c.1389T>C	NP_001186221.1:p.Ala463=
NM_001292027.1:c.1371T>C	NP_001278956.1:p.Ala457=
NM_001292028.1:c.1023T>C	NP_001278957.1:p.Ala341=
NM_000414.4:c.1443T>C MANE Select	NP_000405.1:p.Ala481=
NM_001199291.3:c.1518T>C	NP_001186220.1:p.Ala506=
NM_001199292.2:c.1389T>C	NP_001186221.1:p.Ala463=
NM_001292027.2:c.1371T>C	NP_001278956.1:p.Ala457=
NM_001292028.2:c.1023T>C	NP_001278957.1:p.Ala341=
NM_001374497.1:c.1434T>C	NP_001361426.1:p.Ala478=
NM_001374498.1:c.1371T>C	NP_001361427.1:p.Ala457=
NM_001374499.1:c.1116T>C	NP_001361428.1:p.Ala372=
NM_001374500.1:c.1002T>C	NP_001361429.1:p.Ala334=
NM_001374501.1:c.1032T>C	NP_001361430.1:p.Ala344=
NM_001374502.1:c.1032T>C	NP_001361431.1:p.Ala344=
NM_001374503.1:c.1032T>C	NP_001361432.1:p.Ala344=
NR_164653.1:n.1540T>C
NR_164654.1:n.1808T>C