Canonical Allele Identifier: CA374105643

Linked Data

COSMIC: COSM385213

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107108C>T , CM000671.2:g.95107108C>T GRCh38
NC_000009.11:g.97869390C>T , CM000671.1:g.97869390C>T GRCh37
NC_000009.10:g.96909211C>T NCBI36
NG_011707.1:g.215602G>A , LRG_497:g.215602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26328C>T (AOPEP)
ENST00000696260.1:n.2306G>A (FANCC)
ENST00000289081.8:c.1491G>A (FANCC) MANE Select ENSP00000289081.3:p.Trp497Ter
ENST00000375305.6:c.1491G>A (FANCC) ENSP00000364454.1:p.Trp497Ter
ENST00000649334.1:c.1636G>A (FANCC) ENSP00000497735.1:n.1636G>A
ENST00000289081.7:c.1491G>A (FANCC) ENSP00000289081.3:p.Trp497Ter
ENST00000375305.5:c.1491G>A (FANCC) ENSP00000364454.1:p.Trp497Ter
ENST00000464627.5:n.818G>A (FANCC)
NM_000136.2:c.1491G>A , LRG_497t1:c.1491G>A (FANCC) NP_000127.2:p.Trp497Ter
NM_001243743.1:c.1491G>A (FANCC) NP_001230672.1:p.Trp497Ter
XM_005251802.2:c.810G>A (FANCC) XP_005251859.1:p.Trp270Ter
XM_006717001.1:c.1326G>A (FANCC) XP_006717064.1:p.Trp442Ter
XM_011518365.1:c.1491G>A (FANCC) XP_011516667.1:p.Trp497Ter
XM_011518367.1:c.1035G>A (FANCC) XP_011516669.1:p.Trp345Ter
XM_011519121.1:c.2319+26328C>T (AOPEP) XP_011517423.1:n.2319+26328C>T
XM_005251802.3:c.810G>A (FANCC) XP_005251859.1:p.Trp270Ter
XM_006717001.3:c.1326G>A (FANCC) XP_006717064.1:p.Trp442Ter
XM_011518365.3:c.1491G>A (FANCC) XP_011516667.1:p.Trp497Ter
XM_011518367.2:c.1035G>A (FANCC) XP_011516669.1:p.Trp345Ter
XM_011519121.3:c.2319+26328C>T (AOPEP) XP_011517423.1:n.2319+26328C>T
XM_017014452.2:c.1035G>A (FANCC) XP_016869941.1:p.Trp345Ter
XM_017014453.1:c.1035G>A (FANCC) XP_016869942.1:p.Trp345Ter
XM_017014454.1:c.870G>A (FANCC) XP_016869943.1:p.Trp290Ter
XM_024447451.1:c.1491G>A (FANCC) XP_024303219.1:p.Trp497Ter
XR_001746847.1:n.526C>T
NM_000136.3:c.1491G>A (FANCC) MANE Select NP_000127.2:p.Trp497Ter
NM_001243743.2:c.1491G>A (FANCC) NP_001230672.1:p.Trp497Ter