Canonical Allele Identifier: CA360868506

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1057516735
• gnomAD v4: 5-119506824-T-C
• MyVariant Identifiers: chr5:g.118842519T>C (hg19) ; chr5:g.119506824T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119506824T>C , CM000667.2:g.119506824T>C	GRCh38
NC_000005.9:g.118842519T>C , CM000667.1:g.118842519T>C	GRCh37
NC_000005.8:g.118870418T>C	NCBI36
NG_008182.1:g.59372T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1268T>C	ENSP00000426272.2:p.Leu423Ser
ENST00000518349.6:c.512T>C	ENSP00000507185.1:p.Leu171Ser
ENST00000682445.1:c.*1149T>C	ENSP00000508061.1:n.*1149T>C
ENST00000682531.1:n.3160T>C
ENST00000682626.1:c.*774T>C	ENSP00000507857.1:n.*774T>C
ENST00000682996.1:c.1262-2317T>C	ENSP00000507792.1:n.1262-2317T>C
ENST00000683265.1:n.3054T>C
ENST00000683371.1:c.*1398T>C	ENSP00000508376.1:n.*1398T>C
ENST00000683372.1:n.3278T>C
ENST00000683390.1:n.2958T>C
ENST00000683549.1:n.2882T>C
ENST00000683936.1:c.*2846T>C	ENSP00000507721.1:n.*2846T>C
ENST00000683974.1:n.3043T>C
ENST00000683996.1:c.*478T>C	ENSP00000507060.1:n.*478T>C
ENST00000684131.1:n.2800T>C
ENST00000684160.1:c.*958T>C	ENSP00000507821.1:n.*958T>C
ENST00000684214.1:c.1268T>C	ENSP00000508071.1:p.Leu423Ser
ENST00000414835.7:c.1343T>C	ENSP00000411960.3:p.Leu448Ser
ENST00000510025.7:c.1268T>C MANE Select	ENSP00000424940.3:p.Leu423Ser
ENST00000643250.1:c.*1140T>C	ENSP00000494737.1:n.*1140T>C
ENST00000644146.1:c.*2539T>C	ENSP00000494808.1:n.*2539T>C
ENST00000645099.1:c.827T>C	ENSP00000496091.1:p.Leu276Ser
ENST00000645702.1:c.*671T>C	ENSP00000496432.1:n.*671T>C
ENST00000645832.1:c.*1153T>C	ENSP00000494316.1:n.*1153T>C
ENST00000646058.1:c.1268T>C	ENSP00000493579.1:p.Leu423Ser
ENST00000646355.1:c.*1274T>C	ENSP00000493801.1:n.*1274T>C
ENST00000646554.1:c.*1246T>C	ENSP00000494542.1:n.*1246T>C
ENST00000647335.1:c.*1235T>C	ENSP00000495180.1:n.*1235T>C
ENST00000647342.1:c.*1199T>C	ENSP00000494992.1:n.*1199T>C
ENST00000256216.10:c.1268T>C	ENSP00000256216.6:p.Leu423Ser
ENST00000414835.6:c.848T>C	ENSP00000411960.2:p.Leu283Ser
ENST00000442060.7:c.1268T>C	ENSP00000390208.3:p.Leu423Ser
ENST00000504811.5:c.1343T>C	ENSP00000420914.1:p.Leu448Ser
ENST00000509514.5:c.482T>C	ENSP00000426272.1:p.Leu161Ser
ENST00000510025.5:c.1196T>C	ENSP00000424940.1:p.Leu399Ser
ENST00000513628.5:c.857T>C	ENSP00000425993.1:p.Leu286Ser
ENST00000515235.6:n.3021T>C
ENST00000515320.5:c.1214T>C	ENSP00000424613.1:p.Leu405Ser
ENST00000518349.5:n.402T>C
ENST00000520244.5:n.51T>C
NM_000414.3:c.1268T>C	NP_000405.1:p.Leu423Ser
NM_001199291.2:c.1343T>C	NP_001186220.1:p.Leu448Ser
NM_001199292.1:c.1214T>C	NP_001186221.1:p.Leu405Ser
NM_001292027.1:c.1196T>C	NP_001278956.1:p.Leu399Ser
NM_001292028.1:c.848T>C	NP_001278957.1:p.Leu283Ser
NM_000414.4:c.1268T>C MANE Select	NP_000405.1:p.Leu423Ser
NM_001199291.3:c.1343T>C	NP_001186220.1:p.Leu448Ser
NM_001199292.2:c.1214T>C	NP_001186221.1:p.Leu405Ser
NM_001292027.2:c.1196T>C	NP_001278956.1:p.Leu399Ser
NM_001292028.2:c.848T>C	NP_001278957.1:p.Leu283Ser
NM_001374497.1:c.1259T>C	NP_001361426.1:p.Leu420Ser
NM_001374498.1:c.1262-2317T>C	NP_001361427.1:n.1262-2317T>C
NM_001374499.1:c.941T>C	NP_001361428.1:p.Leu314Ser
NM_001374500.1:c.827T>C	NP_001361429.1:p.Leu276Ser
NM_001374501.1:c.857T>C	NP_001361430.1:p.Leu286Ser
NM_001374502.1:c.857T>C	NP_001361431.1:p.Leu286Ser
NM_001374503.1:c.857T>C	NP_001361432.1:p.Leu286Ser
NR_164653.1:n.1365T>C
NR_164654.1:n.1633T>C