Canonical Allele Identifier: CA466092075

Linked Data

dbSNP Id: rs2071085190
MyVariant Identifiers: chr9:g.97864049T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101767T>C , CM000671.2:g.95101767T>C GRCh38
NC_000009.11:g.97864049T>C , CM000671.1:g.97864049T>C GRCh37
NC_000009.10:g.96903870T>C NCBI36
NG_011707.1:g.220943A>G , LRG_497:g.220943A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+20987T>C (AOPEP)
ENST00000696260.1:n.2432A>G (FANCC)
ENST00000289081.8:c.1617A>G (FANCC) MANE Select ENSP00000289081.3:p.Glu539=
ENST00000375305.6:c.1617A>G (FANCC) ENSP00000364454.1:p.Glu539=
ENST00000649334.1:c.1762A>G (FANCC) ENSP00000497735.1:n.1762A>G
ENST00000289081.7:c.1617A>G (FANCC) ENSP00000289081.3:p.Glu539=
ENST00000375305.5:c.1617A>G (FANCC) ENSP00000364454.1:p.Glu539=
NM_000136.2:c.1617A>G , LRG_497t1:c.1617A>G (FANCC) NP_000127.2:p.Glu539=
NM_001243743.1:c.1617A>G (FANCC) NP_001230672.1:p.Glu539=
XM_005251802.2:c.936A>G (FANCC) XP_005251859.1:p.Glu312=
XM_006717001.1:c.1452A>G (FANCC) XP_006717064.1:p.Glu484=
XM_011518365.1:c.1617A>G (FANCC) XP_011516667.1:p.Glu539=
XM_011518367.1:c.1161A>G (FANCC) XP_011516669.1:p.Glu387=
XM_011519121.1:c.2319+20987T>C (AOPEP) XP_011517423.1:n.2319+20987T>C
XM_005251802.3:c.936A>G (FANCC) XP_005251859.1:p.Glu312=
XM_006717001.3:c.1452A>G (FANCC) XP_006717064.1:p.Glu484=
XM_011518365.3:c.1617A>G (FANCC) XP_011516667.1:p.Glu539=
XM_011518367.2:c.1161A>G (FANCC) XP_011516669.1:p.Glu387=
XM_011519121.3:c.2319+20987T>C (AOPEP) XP_011517423.1:n.2319+20987T>C
XM_017014452.2:c.1161A>G (FANCC) XP_016869941.1:p.Glu387=
XM_017014453.1:c.1161A>G (FANCC) XP_016869942.1:p.Glu387=
XM_017014454.1:c.996A>G (FANCC) XP_016869943.1:p.Glu332=
XM_024447451.1:c.1617A>G (FANCC) XP_024303219.1:p.Glu539=
NM_000136.3:c.1617A>G (FANCC) MANE Select NP_000127.2:p.Glu539=
NM_001243743.2:c.1617A>G (FANCC) NP_001230672.1:p.Glu539=