LDH info

Canonical Allele Identifier: CA3074644
Gene: FAT4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 380911
ClinVar RCV Id: RCV000428726
dbSNP Id: rs1014867

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125491736C>T , CM000666.2:g.125491736C>T GRCh38
NC_000004.11:g.126412891C>T , CM000666.1:g.126412891C>T GRCh37
NC_000004.10:g.126632341C>T NCBI36
NG_033865.1:g.180325C>T

Transcript Alleles

HGVS Amino-acid change
NM_001291285.1:n.14917C>T VV NP_001278214.1:p.Pro4973Ser
NM_001291303.1:n.14920C>T VV NP_001278232.1:p.Pro4974Ser
NM_024582.4:n.14914C>T VV NP_078858.4:p.Pro4972Ser
XM_011532236.1:c.14920C>T XP_011530538.1:p.Pro4974Ser
XM_011532237.1:c.9691C>T XP_011530539.1:p.Pro3231Ser
XM_011532236.2:c.14920C>T XP_011530538.1:p.Pro4974Ser
XM_011532237.2:c.9691C>T XP_011530539.1:p.Pro3231Ser
ENST00000335110.5:n.9637C>T ENSP00000335169.5:p.Pro3213Ser
ENST00000394329.7:c.14914C>T ENSP00000377862.3:p.Pro4972Ser