Canonical Allele Identifier: CA374104852

Linked Data

ClinVar Variation Id: 1774754
ClinVar RCV Id: RCV002403078
gnomAD v4: 9-95101846-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101846G>A , CM000671.2:g.95101846G>A GRCh38
NC_000009.11:g.97864128G>A , CM000671.1:g.97864128G>A GRCh37
NC_000009.10:g.96903949G>A NCBI36
NG_011707.1:g.220864C>T , LRG_497:g.220864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+21066G>A (AOPEP)
ENST00000696260.1:n.2353C>T (FANCC)
ENST00000289081.8:c.1538C>T (FANCC) MANE Select ENSP00000289081.3:p.Ala513Val
ENST00000375305.6:c.1538C>T (FANCC) ENSP00000364454.1:p.Ala513Val
ENST00000649334.1:c.1683C>T (FANCC) ENSP00000497735.1:n.1683C>T
ENST00000289081.7:c.1538C>T (FANCC) ENSP00000289081.3:p.Ala513Val
ENST00000375305.5:c.1538C>T (FANCC) ENSP00000364454.1:p.Ala513Val
NM_000136.2:c.1538C>T , LRG_497t1:c.1538C>T (FANCC) NP_000127.2:p.Ala513Val
NM_001243743.1:c.1538C>T (FANCC) NP_001230672.1:p.Ala513Val
XM_005251802.2:c.857C>T (FANCC) XP_005251859.1:p.Ala286Val
XM_006717001.1:c.1373C>T (FANCC) XP_006717064.1:p.Ala458Val
XM_011518365.1:c.1538C>T (FANCC) XP_011516667.1:p.Ala513Val
XM_011518367.1:c.1082C>T (FANCC) XP_011516669.1:p.Ala361Val
XM_011519121.1:c.2319+21066G>A (AOPEP) XP_011517423.1:n.2319+21066G>A
XM_005251802.3:c.857C>T (FANCC) XP_005251859.1:p.Ala286Val
XM_006717001.3:c.1373C>T (FANCC) XP_006717064.1:p.Ala458Val
XM_011518365.3:c.1538C>T (FANCC) XP_011516667.1:p.Ala513Val
XM_011518367.2:c.1082C>T (FANCC) XP_011516669.1:p.Ala361Val
XM_011519121.3:c.2319+21066G>A (AOPEP) XP_011517423.1:n.2319+21066G>A
XM_017014452.2:c.1082C>T (FANCC) XP_016869941.1:p.Ala361Val
XM_017014453.1:c.1082C>T (FANCC) XP_016869942.1:p.Ala361Val
XM_017014454.1:c.917C>T (FANCC) XP_016869943.1:p.Ala306Val
XM_024447451.1:c.1538C>T (FANCC) XP_024303219.1:p.Ala513Val
NM_000136.3:c.1538C>T (FANCC) MANE Select NP_000127.2:p.Ala513Val
NM_001243743.2:c.1538C>T (FANCC) NP_001230672.1:p.Ala513Val