Canonical Allele Identifier: CA5137686
Community Standard Title: NM_000136.3(FANCC):c.586G>T (p.Val196Phe)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95150023C>A , CM000671.2:g.95150023C>A GRCh38
NC_000009.11:g.97912305C>A , CM000671.1:g.97912305C>A GRCh37
NC_000009.10:g.96952126C>A NCBI36
NG_011707.1:g.172687G>T , LRG_497:g.172687G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000136.3:c.586G>T (FANCC) MANE Select NP_000127.2:p.Val196Phe
ENST00000289081.8:c.586G>T (FANCC) MANE Select ENSP00000289081.3:p.Val196Phe
NM_000136.2:c.586G>T , LRG_497t1:c.586G>T (FANCC) NP_000127.2:p.Val196Phe
NM_001243743.1:c.586G>T (FANCC) NP_001230672.1:p.Val196Phe
NM_001243743.2:c.586G>T (FANCC) NP_001230672.1:p.Val196Phe
NM_001243744.1:c.586G>T (FANCC) NP_001230673.1:p.Val196Phe
NM_001243744.2:c.586G>T (FANCC) NP_001230673.1:p.Val196Phe
ENST00000289081.7:c.586G>T (FANCC) ENSP00000289081.3:p.Val196Phe
ENST00000375305.5:c.586G>T (FANCC) ENSP00000364454.1:p.Val196Phe
ENST00000375305.6:c.586G>T (FANCC) ENSP00000364454.1:p.Val196Phe
ENST00000490972.6:c.586G>T (FANCC) ENSP00000479931.1:p.Val196Phe
ENST00000490972.7:c.586G>T (FANCC) ENSP00000479931.1:p.Val196Phe
ENST00000493098.1:n.11G>T (FANCC)
ENST00000636777.1:n.644G>T (FANCC)
ENST00000649334.1:c.731G>T (FANCC) ENSP00000497735.1:n.731G>T
ENST00000649701.1:n.301G>T (FANCC)
ENST00000696261.1:n.977G>T (FANCC)
ENST00000710812.1:n.3223C>A (AOPEP)
XM_006717001.1:c.522-14521G>T (FANCC) XP_006717064.1:n.522-14521G>T
XM_006717001.3:c.522-14521G>T (FANCC) XP_006717064.1:n.522-14521G>T
XM_006717002.2:c.586G>T (FANCC) XP_006717065.1:p.Val196Phe
XM_006717002.4:c.586G>T (FANCC) XP_006717065.1:p.Val196Phe
XM_006717004.2:c.586G>T (FANCC) XP_006717067.1:p.Val196Phe
XM_006717004.4:c.586G>T (FANCC) XP_006717067.1:p.Val196Phe
XM_011518365.1:c.586G>T (FANCC) XP_011516667.1:p.Val196Phe
XM_011518365.3:c.586G>T (FANCC) XP_011516667.1:p.Val196Phe
XM_011518366.1:c.586G>T (FANCC) XP_011516668.1:p.Val196Phe
XM_011518366.3:c.586G>T (FANCC) XP_011516668.1:p.Val196Phe
XM_011518367.1:c.130G>T (FANCC) XP_011516669.1:p.Val44Phe
XM_011518367.2:c.130G>T (FANCC) XP_011516669.1:p.Val44Phe
XM_017014452.2:c.130G>T (FANCC) XP_016869941.1:p.Val44Phe
XM_017014453.1:c.130G>T (FANCC) XP_016869942.1:p.Val44Phe
XM_017014454.1:c.66-14521G>T (FANCC) XP_016869943.1:n.66-14521G>T
XM_024447451.1:c.586G>T (FANCC) XP_024303219.1:p.Val196Phe