LDH info

Canonical Allele Identifier: CA153114
Gene: HNF4A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 129240
dbSNP Id: rs1800961

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413724C>T , CM000682.2:g.44413724C>T GRCh38
NC_000020.10:g.43042364C>T , CM000682.1:g.43042364C>T GRCh37
NC_000020.9:g.42475778C>T NCBI36
NG_009818.1:g.62924C>T , LRG_483:g.62924C>T

Transcript Alleles

HGVS Amino-acid change
NM_000457.4:c.416C>T , LRG_483t2:c.416C>T NP_000448.3:p.Thr139Ile
NM_001030003.2:c.350C>T VV NP_001025174.1:p.Thr117Ile
NM_001030004.2:c.350C>T VV NP_001025175.1:p.Thr117Ile
NM_001258355.1:c.395C>T VV NP_001245284.1:p.Thr132Ile
NM_001287182.1:c.341C>T VV NP_001274111.1:p.Thr114Ile
NM_001287183.1:c.341C>T , LRG_483t3:c.341C>T NP_001274112.1:p.Thr114Ile
NM_001287184.1:c.341C>T VV NP_001274113.1:p.Thr114Ile
NM_175914.4:c.350C>T , LRG_483t1:c.350C>T NP_787110.2:p.Thr117Ile
NM_178849.2:c.416C>T VV NP_849180.1:p.Thr139Ile
NM_178850.2:c.416C>T VV NP_849181.1:p.Thr139Ile
XM_005260407.2:c.533C>T XP_005260464.1:p.Thr178Ile
XM_011528797.1:c.464C>T XP_011527099.1:p.Thr155Ile
XM_011528798.1:c.464C>T XP_011527100.1:p.Thr155Ile
XM_005260407.4:c.533C>T XP_005260464.1:p.Thr178Ile
ENST00000316099.8:c.416C>T ENSP00000312987.3:p.Thr139Ile
ENST00000316673.8:c.350C>T ENSP00000315180.4:p.Thr117Ile
ENST00000372920.1:c.*183C>T ENSP00000362011.1:p.=
ENST00000415691.2:c.416C>T ENSP00000412111.1:p.Thr139Ile
ENST00000443598.6:c.416C>T ENSP00000410911.2:p.Thr139Ile
ENST00000457232.5:c.350C>T ENSP00000396216.1:p.Thr117Ile
ENST00000609795.5:c.350C>T ENSP00000476609.1:p.Thr117Ile
ENST00000619550.4:c.341C>T ENSP00000481331.1:p.Thr114Ile