Canonical Allele Identifier: CA2522289322

Linked Data

gnomAD v4: 9-95111177-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111177G>A , CM000671.2:g.95111177G>A GRCh38
NC_000009.11:g.97873459G>A , CM000671.1:g.97873459G>A GRCh37
NC_000009.10:g.96913280G>A NCBI36
NG_011707.1:g.211533C>T , LRG_497:g.211533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30397G>A (AOPEP)
ENST00000696260.1:n.2144+286C>T (FANCC)
ENST00000289081.8:c.1329+286C>T (FANCC) MANE Select ENSP00000289081.3:n.1329+286C>T
ENST00000375305.6:c.1329+286C>T (FANCC) ENSP00000364454.1:n.1329+286C>T
ENST00000490972.7:c.*19C>T (FANCC) ENSP00000479931.1:n.*19C>T
ENST00000649334.1:c.1474+286C>T (FANCC) ENSP00000497735.1:n.1474+286C>T
ENST00000289081.7:c.1329+286C>T (FANCC) ENSP00000289081.3:n.1329+286C>T
ENST00000375305.5:c.1329+286C>T (FANCC) ENSP00000364454.1:n.1329+286C>T
ENST00000464627.5:n.656+286C>T (FANCC)
ENST00000477942.5:n.684+286C>T (FANCC)
ENST00000480712.5:n.514+286C>T (FANCC)
ENST00000490972.6:c.*19C>T (FANCC) ENSP00000479931.1:n.*19C>T
NM_000136.2:c.1329+286C>T , LRG_497t1:c.1329+286C>T (FANCC) NP_000127.2:n.1329+286C>T
NM_001243743.1:c.1329+286C>T (FANCC) NP_001230672.1:n.1329+286C>T
NM_001243744.1:c.*19C>T (FANCC) NP_001230673.1:n.*19C>T
XM_005251802.2:c.648+286C>T (FANCC) XP_005251859.1:n.648+286C>T
XM_006717001.1:c.1164+286C>T (FANCC) XP_006717064.1:n.1164+286C>T
XM_006717002.2:c.1329+286C>T (FANCC) XP_006717065.1:n.1329+286C>T
XM_011518365.1:c.1329+286C>T (FANCC) XP_011516667.1:n.1329+286C>T
XM_011518367.1:c.873+286C>T (FANCC) XP_011516669.1:n.873+286C>T
XM_011519121.1:c.2319+30397G>A (AOPEP) XP_011517423.1:n.2319+30397G>A
XM_005251802.3:c.648+286C>T (FANCC) XP_005251859.1:n.648+286C>T
XM_006717001.3:c.1164+286C>T (FANCC) XP_006717064.1:n.1164+286C>T
XM_006717002.4:c.1329+286C>T (FANCC) XP_006717065.1:n.1329+286C>T
XM_011518365.3:c.1329+286C>T (FANCC) XP_011516667.1:n.1329+286C>T
XM_011518366.3:c.*134C>T (FANCC) XP_011516668.1:n.*134C>T
XM_011518367.2:c.873+286C>T (FANCC) XP_011516669.1:n.873+286C>T
XM_011519121.3:c.2319+30397G>A (AOPEP) XP_011517423.1:n.2319+30397G>A
XM_017014452.2:c.873+286C>T (FANCC) XP_016869941.1:n.873+286C>T
XM_017014453.1:c.873+286C>T (FANCC) XP_016869942.1:n.873+286C>T
XM_017014454.1:c.708+286C>T (FANCC) XP_016869943.1:n.708+286C>T
XM_024447451.1:c.1329+286C>T (FANCC) XP_024303219.1:n.1329+286C>T
NM_000136.3:c.1329+286C>T (FANCC) MANE Select NP_000127.2:n.1329+286C>T
NM_001243743.2:c.1329+286C>T (FANCC) NP_001230672.1:n.1329+286C>T
NM_001243744.2:c.*19C>T (FANCC) NP_001230673.1:n.*19C>T