LDH info

Canonical Allele Identifier: CA16041335
Gene: FANCC HGNC NCBI
C9orf3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370395
ClinVar RCV Id: RCV000411700
dbSNP Id: rs1057516455

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101785C>T , CM000671.2:g.95101785C>T GRCh38
NC_000009.11:g.97864067C>T , CM000671.1:g.97864067C>T GRCh37
NC_000009.10:g.96903888C>T NCBI36
NG_011707.1:g.220925G>A , LRG_497:g.220925G>A

Transcript Alleles

HGVS Amino-acid change
NM_000136.2:c.1599G>A , LRG_497t1:c.1599G>A (FANCC) NP_000127.2:p.Trp533Ter
NM_001243743.1:c.1599G>A (FANCC) VV NP_001230672.1:p.Trp533Ter
XM_005251802.2:c.918G>A (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.1:c.1434G>A (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.1:c.1599G>A (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.1:c.1143G>A (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.1:c.2319+21005C>T (C9orf3) XP_011517423.1:p.=
XM_005251802.3:c.918G>A (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.3:c.1434G>A (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.3:c.1599G>A (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.2:c.1143G>A (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.3:c.2319+21005C>T (C9orf3) XP_011517423.1:p.=
XM_017014452.2:c.1143G>A (FANCC) XP_016869941.1:p.Trp381Ter
XM_017014453.1:c.1143G>A (FANCC) XP_016869942.1:p.Trp381Ter
XM_017014454.1:c.978G>A (FANCC) XP_016869943.1:p.Trp326Ter
XM_024447451.1:c.1599G>A (FANCC) XP_024303219.1:p.Trp533Ter
NM_000136.3:c.1599G>A (FANCC) VV NP_000127.2:p.Trp533Ter
ENST00000289081.7:c.1599G>A ENSP00000289081.3:p.Trp533Ter
ENST00000375305.5:c.1599G>A ENSP00000364454.1:p.Trp533Ter