Canonical Allele Identifier: CA374106261

Linked Data

dbSNP Id: rs2134456617

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107253A>T , CM000671.2:g.95107253A>T GRCh38
NC_000009.11:g.97869535A>T , CM000671.1:g.97869535A>T GRCh37
NC_000009.10:g.96909356A>T NCBI36
NG_011707.1:g.215457T>A , LRG_497:g.215457T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26473A>T (AOPEP)
ENST00000696260.1:n.2161T>A (FANCC)
ENST00000289081.8:c.1346T>A (FANCC) MANE Select ENSP00000289081.3:p.Val449Glu
ENST00000375305.6:c.1346T>A (FANCC) ENSP00000364454.1:p.Val449Glu
ENST00000649334.1:c.1491T>A (FANCC) ENSP00000497735.1:n.1491T>A
ENST00000289081.7:c.1346T>A (FANCC) ENSP00000289081.3:p.Val449Glu
ENST00000375305.5:c.1346T>A (FANCC) ENSP00000364454.1:p.Val449Glu
ENST00000464627.5:n.673T>A (FANCC)
NM_000136.2:c.1346T>A , LRG_497t1:c.1346T>A (FANCC) NP_000127.2:p.Val449Glu
NM_001243743.1:c.1346T>A (FANCC) NP_001230672.1:p.Val449Glu
XM_005251802.2:c.665T>A (FANCC) XP_005251859.1:p.Val222Glu
XM_006717001.1:c.1181T>A (FANCC) XP_006717064.1:p.Val394Glu
XM_011518365.1:c.1346T>A (FANCC) XP_011516667.1:p.Val449Glu
XM_011518367.1:c.890T>A (FANCC) XP_011516669.1:p.Val297Glu
XM_011519121.1:c.2319+26473A>T (AOPEP) XP_011517423.1:n.2319+26473A>T
XM_005251802.3:c.665T>A (FANCC) XP_005251859.1:p.Val222Glu
XM_006717001.3:c.1181T>A (FANCC) XP_006717064.1:p.Val394Glu
XM_011518365.3:c.1346T>A (FANCC) XP_011516667.1:p.Val449Glu
XM_011518367.2:c.890T>A (FANCC) XP_011516669.1:p.Val297Glu
XM_011519121.3:c.2319+26473A>T (AOPEP) XP_011517423.1:n.2319+26473A>T
XM_017014452.2:c.890T>A (FANCC) XP_016869941.1:p.Val297Glu
XM_017014453.1:c.890T>A (FANCC) XP_016869942.1:p.Val297Glu
XM_017014454.1:c.725T>A (FANCC) XP_016869943.1:p.Val242Glu
XM_024447451.1:c.1346T>A (FANCC) XP_024303219.1:p.Val449Glu
XR_001746847.1:n.671A>T
NM_000136.3:c.1346T>A (FANCC) MANE Select NP_000127.2:p.Val449Glu
NM_001243743.2:c.1346T>A (FANCC) NP_001230672.1:p.Val449Glu