Canonical Allele Identifier: CA374107253

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111479T>G , CM000671.2:g.95111479T>G GRCh38
NC_000009.11:g.97873761T>G , CM000671.1:g.97873761T>G GRCh37
NC_000009.10:g.96913582T>G NCBI36
NG_011707.1:g.211231A>C , LRG_497:g.211231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30699T>G (AOPEP)
ENST00000696260.1:n.2128A>C (FANCC)
ENST00000289081.8:c.1313A>C (FANCC) MANE Select ENSP00000289081.3:p.Gln438Pro
ENST00000375305.6:c.1313A>C (FANCC) ENSP00000364454.1:p.Gln438Pro
ENST00000490972.7:c.1313A>C (FANCC) ENSP00000479931.1:p.Gln438Pro
ENST00000649334.1:c.1458A>C (FANCC) ENSP00000497735.1:n.1458A>C
ENST00000289081.7:c.1313A>C (FANCC) ENSP00000289081.3:p.Gln438Pro
ENST00000375305.5:c.1313A>C (FANCC) ENSP00000364454.1:p.Gln438Pro
ENST00000464627.5:n.640A>C (FANCC)
ENST00000477942.5:n.668A>C (FANCC)
ENST00000480712.5:n.498A>C (FANCC)
ENST00000490972.6:c.1313A>C (FANCC) ENSP00000479931.1:p.Gln438Pro
NM_000136.2:c.1313A>C , LRG_497t1:c.1313A>C (FANCC) NP_000127.2:p.Gln438Pro
NM_001243743.1:c.1313A>C (FANCC) NP_001230672.1:p.Gln438Pro
NM_001243744.1:c.1313A>C (FANCC) NP_001230673.1:p.Gln438Pro
XM_005251802.2:c.632A>C (FANCC) XP_005251859.1:p.Gln211Pro
XM_006717001.1:c.1148A>C (FANCC) XP_006717064.1:p.Gln383Pro
XM_006717002.2:c.1313A>C (FANCC) XP_006717065.1:p.Gln438Pro
XM_011518365.1:c.1313A>C (FANCC) XP_011516667.1:p.Gln438Pro
XM_011518366.1:c.1313A>C (FANCC) XP_011516668.1:p.Gln438Pro
XM_011518367.1:c.857A>C (FANCC) XP_011516669.1:p.Gln286Pro
XM_011519121.1:c.2319+30699T>G (AOPEP) XP_011517423.1:n.2319+30699T>G
XM_005251802.3:c.632A>C (FANCC) XP_005251859.1:p.Gln211Pro
XM_006717001.3:c.1148A>C (FANCC) XP_006717064.1:p.Gln383Pro
XM_006717002.4:c.1313A>C (FANCC) XP_006717065.1:p.Gln438Pro
XM_011518365.3:c.1313A>C (FANCC) XP_011516667.1:p.Gln438Pro
XM_011518366.3:c.1313A>C (FANCC) XP_011516668.1:p.Gln438Pro
XM_011518367.2:c.857A>C (FANCC) XP_011516669.1:p.Gln286Pro
XM_011519121.3:c.2319+30699T>G (AOPEP) XP_011517423.1:n.2319+30699T>G
XM_017014452.2:c.857A>C (FANCC) XP_016869941.1:p.Gln286Pro
XM_017014453.1:c.857A>C (FANCC) XP_016869942.1:p.Gln286Pro
XM_017014454.1:c.692A>C (FANCC) XP_016869943.1:p.Gln231Pro
XM_024447451.1:c.1313A>C (FANCC) XP_024303219.1:p.Gln438Pro
NM_000136.3:c.1313A>C (FANCC) MANE Select NP_000127.2:p.Gln438Pro
NM_001243743.2:c.1313A>C (FANCC) NP_001230672.1:p.Gln438Pro
NM_001243744.2:c.1313A>C (FANCC) NP_001230673.1:p.Gln438Pro