LDH info

Canonical Allele Identifier: CA16041353
Gene: FANCC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371258
ClinVar RCV Id: RCV000409107
dbSNP Id: rs1057517131

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249183_95249184dup , CM000671.2:g.95249183_95249184dup GRCh38
NC_000009.11:g.98011465_98011466dup , CM000671.1:g.98011465_98011466dup GRCh37
NC_000009.10:g.97051286_97051287dup NCBI36
NG_011707.1:g.73526_73527dup , LRG_497:g.73526_73527dup

Transcript Alleles

HGVS Amino-acid change
NM_000136.2:c.108_109dup , LRG_497t1:c.108_109dup NP_000127.2:p.His37LeufsTer10
NM_001243743.1:c.108_109dup VV NP_001230672.1:p.His37LeufsTer10
NM_001243744.1:c.108_109dup VV NP_001230673.1:p.His37LeufsTer10
XM_006717001.1:c.108_109dup XP_006717064.1:p.His37LeufsTer10
XM_006717002.2:c.108_109dup XP_006717065.1:p.His37LeufsTer10
XM_006717004.2:c.108_109dup XP_006717067.1:p.His37LeufsTer10
XM_011518365.1:c.108_109dup XP_011516667.1:p.His37LeufsTer10
XM_011518366.1:c.108_109dup XP_011516668.1:p.His37LeufsTer10
XM_011518367.1:c.-494_-493dup XP_011516669.1:p.=
XM_006717001.3:c.108_109dup XP_006717064.1:p.His37LeufsTer10
XM_006717002.4:c.108_109dup XP_006717065.1:p.His37LeufsTer10
XM_006717004.4:c.108_109dup XP_006717067.1:p.His37LeufsTer10
XM_011518365.3:c.108_109dup XP_011516667.1:p.His37LeufsTer10
XM_011518366.3:c.108_109dup XP_011516668.1:p.His37LeufsTer10
XM_011518367.2:c.-494_-493dup XP_011516669.1:p.=
XM_017014452.2:c.-494_-493dup XP_016869941.1:p.=
XM_017014453.1:c.-494_-493dup XP_016869942.1:p.=
XM_017014454.1:c.-494_-493dup XP_016869943.1:p.=
XM_024447451.1:c.108_109dup XP_024303219.1:p.His37LeufsTer10
NM_000136.3:c.108_109dup VV MANE Preferred NP_000127.2:p.His37LeufsTer10
ENST00000289081.7:c.108_109dup ENSP00000289081.3:p.His37LeufsTer10
ENST00000375305.5:c.108_109dup ENSP00000364454.1:p.His37LeufsTer10
ENST00000433829.1:c.108_109dup ENSP00000406908.1:p.His37LeufsTer10
ENST00000474949.1:n.370_371dup
ENST00000490972.6:c.108_109dup ENSP00000479931.1:p.His37LeufsTer10