LDH info

Canonical Allele Identifier: CA16041347
Gene: FANCC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370985
ClinVar RCV Id: RCV000410360
dbSNP Id: rs1057516917

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171144C>A , CM000671.2:g.95171144C>A GRCh38
NC_000009.11:g.97933426C>A , CM000671.1:g.97933426C>A GRCh37
NC_000009.10:g.96973247C>A NCBI36
NG_011707.1:g.151566G>T , LRG_497:g.151566G>T

Transcript Alleles

HGVS Amino-acid change
NM_000136.2:c.457-1G>T , LRG_497t1:c.457-1G>T NP_000127.2:p.=
NM_001243743.1:c.457-1G>T VV NP_001230672.1:p.=
NM_001243744.1:c.457-1G>T VV NP_001230673.1:p.=
XM_006717001.1:c.457-1G>T XP_006717064.1:p.=
XM_006717002.2:c.457-1G>T XP_006717065.1:p.=
XM_006717004.2:c.457-1G>T XP_006717067.1:p.=
XM_011518365.1:c.457-1G>T XP_011516667.1:p.=
XM_011518366.1:c.457-1G>T XP_011516668.1:p.=
XM_011518367.1:c.1-1G>T XP_011516669.1:p.=
XM_006717001.3:c.457-1G>T XP_006717064.1:p.=
XM_006717002.4:c.457-1G>T XP_006717065.1:p.=
XM_006717004.4:c.457-1G>T XP_006717067.1:p.=
XM_011518365.3:c.457-1G>T XP_011516667.1:p.=
XM_011518366.3:c.457-1G>T XP_011516668.1:p.=
XM_011518367.2:c.1-1G>T XP_011516669.1:p.=
XM_017014452.2:c.1-1G>T XP_016869941.1:p.=
XM_017014453.1:c.1-1G>T XP_016869942.1:p.=
XM_017014454.1:c.1-1G>T XP_016869943.1:p.=
XM_024447451.1:c.457-1G>T XP_024303219.1:p.=
NM_000136.3:c.457-1G>T VV MANE Preferred NP_000127.2:p.=
ENST00000289081.7:c.457-1G>T ENSP00000289081.3:p.=
ENST00000375305.5:c.457-1G>T ENSP00000364454.1:p.=
ENST00000474949.1:n.814-1G>T
ENST00000490972.6:c.457-1G>T ENSP00000479931.1:p.=