Canonical Allele Identifier: CA16040967
Gene: HSD17B4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370743
ClinVar RCV Id: RCV000412021
dbSNP Id: rs1057516735

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000414.3:c.1268T>G VV NP_000405.1:p.Leu423Ter
NM_001199291.2:c.1343T>G VV NP_001186220.1:p.Leu448Ter
NM_001199292.1:c.1214T>G VV NP_001186221.1:p.Leu405Ter
NM_001292027.1:c.1196T>G VV NP_001278956.1:p.Leu399Ter
NM_001292028.1:c.848T>G VV NP_001278957.1:p.Leu283Ter
ENST00000256216.10:c.1268T>G ENSP00000256216.6:p.Leu423Ter
ENST00000414835.6:c.848T>G ENSP00000411960.2:p.Leu283Ter
ENST00000442060.7:c.1268T>G ENSP00000390208.3:p.Leu423Ter
ENST00000504811.5:c.1343T>G ENSP00000420914.1:p.Leu448Ter
ENST00000509514.5:c.482T>G ENSP00000426272.1:p.Leu161Ter
ENST00000510025.5:c.1196T>G ENSP00000424940.1:p.Leu399Ter
ENST00000513628.5:c.857T>G ENSP00000425993.1:p.Leu286Ter
ENST00000515235.6:n.3021T>G
ENST00000515320.5:c.1214T>G ENSP00000424613.1:p.Leu405Ter
ENST00000518349.5:n.402T>G
ENST00000520244.5:n.51T>G