Canonical Allele Identifier: CA374104238

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101717G>T , CM000671.2:g.95101717G>T GRCh38
NC_000009.11:g.97863999G>T , CM000671.1:g.97863999G>T GRCh37
NC_000009.10:g.96903820G>T NCBI36
NG_011707.1:g.220993C>A , LRG_497:g.220993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+20937G>T (AOPEP)
ENST00000696260.1:n.2482C>A (FANCC)
ENST00000289081.8:c.1667C>A (FANCC) MANE Select ENSP00000289081.3:p.Thr556Asn
ENST00000375305.6:c.1667C>A (FANCC) ENSP00000364454.1:p.Thr556Asn
ENST00000649334.1:c.1812C>A (FANCC) ENSP00000497735.1:n.1812C>A
ENST00000289081.7:c.1667C>A (FANCC) ENSP00000289081.3:p.Thr556Asn
ENST00000375305.5:c.1667C>A (FANCC) ENSP00000364454.1:p.Thr556Asn
NM_000136.2:c.1667C>A , LRG_497t1:c.1667C>A (FANCC) NP_000127.2:p.Thr556Asn
NM_001243743.1:c.1667C>A (FANCC) NP_001230672.1:p.Thr556Asn
XM_005251802.2:c.986C>A (FANCC) XP_005251859.1:p.Thr329Asn
XM_006717001.1:c.1502C>A (FANCC) XP_006717064.1:p.Thr501Asn
XM_011518365.1:c.1667C>A (FANCC) XP_011516667.1:p.Thr556Asn
XM_011518367.1:c.1211C>A (FANCC) XP_011516669.1:p.Thr404Asn
XM_011519121.1:c.2319+20937G>T (AOPEP) XP_011517423.1:n.2319+20937G>T
XM_005251802.3:c.986C>A (FANCC) XP_005251859.1:p.Thr329Asn
XM_006717001.3:c.1502C>A (FANCC) XP_006717064.1:p.Thr501Asn
XM_011518365.3:c.1667C>A (FANCC) XP_011516667.1:p.Thr556Asn
XM_011518367.2:c.1211C>A (FANCC) XP_011516669.1:p.Thr404Asn
XM_011519121.3:c.2319+20937G>T (AOPEP) XP_011517423.1:n.2319+20937G>T
XM_017014452.2:c.1211C>A (FANCC) XP_016869941.1:p.Thr404Asn
XM_017014453.1:c.1211C>A (FANCC) XP_016869942.1:p.Thr404Asn
XM_017014454.1:c.1046C>A (FANCC) XP_016869943.1:p.Thr349Asn
XM_024447451.1:c.1667C>A (FANCC) XP_024303219.1:p.Thr556Asn
NM_000136.3:c.1667C>A (FANCC) MANE Select NP_000127.2:p.Thr556Asn
NM_001243743.2:c.1667C>A (FANCC) NP_001230672.1:p.Thr556Asn