Canonical Allele Identifier: CA374104366

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101753T>A , CM000671.2:g.95101753T>A GRCh38
NC_000009.11:g.97864035T>A , CM000671.1:g.97864035T>A GRCh37
NC_000009.10:g.96903856T>A NCBI36
NG_011707.1:g.220957A>T , LRG_497:g.220957A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+20973T>A (AOPEP)
ENST00000696260.1:n.2446A>T (FANCC)
ENST00000289081.8:c.1631A>T (FANCC) MANE Select ENSP00000289081.3:p.Glu544Val
ENST00000375305.6:c.1631A>T (FANCC) ENSP00000364454.1:p.Glu544Val
ENST00000649334.1:c.1776A>T (FANCC) ENSP00000497735.1:n.1776A>T
ENST00000289081.7:c.1631A>T (FANCC) ENSP00000289081.3:p.Glu544Val
ENST00000375305.5:c.1631A>T (FANCC) ENSP00000364454.1:p.Glu544Val
NM_000136.2:c.1631A>T , LRG_497t1:c.1631A>T (FANCC) NP_000127.2:p.Glu544Val
NM_001243743.1:c.1631A>T (FANCC) NP_001230672.1:p.Glu544Val
XM_005251802.2:c.950A>T (FANCC) XP_005251859.1:p.Glu317Val
XM_006717001.1:c.1466A>T (FANCC) XP_006717064.1:p.Glu489Val
XM_011518365.1:c.1631A>T (FANCC) XP_011516667.1:p.Glu544Val
XM_011518367.1:c.1175A>T (FANCC) XP_011516669.1:p.Glu392Val
XM_011519121.1:c.2319+20973T>A (AOPEP) XP_011517423.1:n.2319+20973T>A
XM_005251802.3:c.950A>T (FANCC) XP_005251859.1:p.Glu317Val
XM_006717001.3:c.1466A>T (FANCC) XP_006717064.1:p.Glu489Val
XM_011518365.3:c.1631A>T (FANCC) XP_011516667.1:p.Glu544Val
XM_011518367.2:c.1175A>T (FANCC) XP_011516669.1:p.Glu392Val
XM_011519121.3:c.2319+20973T>A (AOPEP) XP_011517423.1:n.2319+20973T>A
XM_017014452.2:c.1175A>T (FANCC) XP_016869941.1:p.Glu392Val
XM_017014453.1:c.1175A>T (FANCC) XP_016869942.1:p.Glu392Val
XM_017014454.1:c.1010A>T (FANCC) XP_016869943.1:p.Glu337Val
XM_024447451.1:c.1631A>T (FANCC) XP_024303219.1:p.Glu544Val
NM_000136.3:c.1631A>T (FANCC) MANE Select NP_000127.2:p.Glu544Val
NM_001243743.2:c.1631A>T (FANCC) NP_001230672.1:p.Glu544Val