Canonical Allele Identifier: CA5137632
Gene: FANCC HGNC NCBI
C9orf3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420449
dbSNP Id: rs776054094

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95135381T>A , CM000671.2:g.95135381T>A GRCh38
NC_000009.11:g.97897663T>A , CM000671.1:g.97897663T>A GRCh37
NC_000009.10:g.96937484T>A NCBI36
NG_011707.1:g.187329A>T , LRG_497:g.187329A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000289081.8:c.808A>T (FANCC) MANE Select ENSP00000289081.3:p.Arg270Ter
ENST00000375305.6:c.808A>T ENSP00000364454.1:p.Arg270Ter
ENST00000490972.7:c.808A>T ENSP00000479931.1:p.Arg270Ter
ENST00000649334.1:n.953A>T ENSP00000497735.1:p.=
ENST00000649701.1:n.523A>T
ENST00000289081.7:c.808A>T ENSP00000289081.3:p.Arg270Ter
ENST00000375305.5:c.808A>T ENSP00000364454.1:p.Arg270Ter
ENST00000477942.5:n.163A>T
ENST00000490972.6:c.808A>T ENSP00000479931.1:p.Arg270Ter
NM_000136.2:c.808A>T , LRG_497t1:c.808A>T (FANCC) NP_000127.2:p.Arg270Ter
NM_001243743.1:c.808A>T (FANCC) NP_001230672.1:p.Arg270Ter
NM_001243744.1:c.808A>T (FANCC) NP_001230673.1:p.Arg270Ter
XM_005251802.2:c.127A>T (FANCC) XP_005251859.1:p.Arg43Ter
XM_006717001.1:c.643A>T (FANCC) XP_006717064.1:p.Arg215Ter
XM_006717002.2:c.808A>T (FANCC) XP_006717065.1:p.Arg270Ter
XM_006717004.2:c.808A>T (FANCC) XP_006717067.1:p.Arg270Ter
XM_011518365.1:c.808A>T (FANCC) XP_011516667.1:p.Arg270Ter
XM_011518366.1:c.808A>T (FANCC) XP_011516668.1:p.Arg270Ter
XM_011518367.1:c.352A>T (FANCC) XP_011516669.1:p.Arg118Ter
XM_011519121.1:c.2320-11830T>A (C9orf3) XP_011517423.1:p.=
XM_005251802.3:c.127A>T (FANCC) XP_005251859.1:p.Arg43Ter
XM_006717001.3:c.643A>T (FANCC) XP_006717064.1:p.Arg215Ter
XM_006717002.4:c.808A>T (FANCC) XP_006717065.1:p.Arg270Ter
XM_006717004.4:c.808A>T (FANCC) XP_006717067.1:p.Arg270Ter
XM_011518365.3:c.808A>T (FANCC) XP_011516667.1:p.Arg270Ter
XM_011518366.3:c.808A>T (FANCC) XP_011516668.1:p.Arg270Ter
XM_011518367.2:c.352A>T (FANCC) XP_011516669.1:p.Arg118Ter
XM_011519121.3:c.2320-11830T>A (C9orf3) XP_011517423.1:p.=
XM_017014452.2:c.352A>T (FANCC) XP_016869941.1:p.Arg118Ter
XM_017014453.1:c.352A>T (FANCC) XP_016869942.1:p.Arg118Ter
XM_017014454.1:c.187A>T (FANCC) XP_016869943.1:p.Arg63Ter
XM_024447451.1:c.808A>T (FANCC) XP_024303219.1:p.Arg270Ter
NM_000136.3:c.808A>T (FANCC) MANE Select NP_000127.2:p.Arg270Ter
NM_001243743.2:c.808A>T (FANCC) NP_001230672.1:p.Arg270Ter
NM_001243744.2:c.808A>T (FANCC) NP_001230673.1:p.Arg270Ter