Canonical Allele Identifier: CA16040961
Gene: HSD17B4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371042
ClinVar RCV Id: RCV000412316
dbSNP Id: rs1057516958

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119475871G>T , CM000667.2:g.119475871G>T GRCh38
NC_000005.9:g.118811566G>T , CM000667.1:g.118811566G>T GRCh37
NC_000005.8:g.118839465G>T NCBI36
NG_008182.1:g.28419G>T

Transcript Alleles

HGVS Amino-acid change
NM_000414.3:c.349+1G>T VV NP_000405.1:p.=
NM_001199291.2:c.424+1G>T VV NP_001186220.1:p.=
NM_001199292.1:c.295+1G>T VV NP_001186221.1:p.=
NM_001292027.1:c.277+1G>T VV NP_001278956.1:p.=
NM_001292028.1:c.-63+1G>T VV NP_001278957.1:p.=
ENST00000256216.10:c.349+1G>T ENSP00000256216.6:p.=
ENST00000414835.6:c.-63+1G>T ENSP00000411960.2:p.=
ENST00000442060.7:c.349+1G>T ENSP00000390208.3:p.=
ENST00000503168.5:n.338+1G>T
ENST00000504811.5:c.424+1G>T ENSP00000420914.1:p.=
ENST00000507695.1:n.322G>T
ENST00000510025.5:c.277+1G>T ENSP00000424940.1:p.=
ENST00000511186.5:n.480+1G>T
ENST00000512841.5:n.397+1G>T
ENST00000515235.6:n.409+1G>T
ENST00000515320.5:c.295+1G>T ENSP00000424613.1:p.=