Canonical Allele Identifier: CA349507

Linked Data

ClinVar Variation Id: 220345
dbSNP Id: rs76895298
gnomAD v2: 9-97869387-A-G
gnomAD v3: 9-95107105-A-G
gnomAD v4: 9-95107105-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107105A>G , CM000671.2:g.95107105A>G GRCh38
NC_000009.11:g.97869387A>G , CM000671.1:g.97869387A>G GRCh37
NC_000009.10:g.96909208A>G NCBI36
NG_011707.1:g.215605T>C , LRG_497:g.215605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26325A>G (AOPEP)
ENST00000696260.1:n.2309T>C (FANCC)
ENST00000289081.8:c.1494T>C (FANCC) MANE Select ENSP00000289081.3:p.Ala498=
ENST00000375305.6:c.1494T>C (FANCC) ENSP00000364454.1:p.Ala498=
ENST00000649334.1:c.1639T>C (FANCC) ENSP00000497735.1:n.1639T>C
ENST00000289081.7:c.1494T>C (FANCC) ENSP00000289081.3:p.Ala498=
ENST00000375305.5:c.1494T>C (FANCC) ENSP00000364454.1:p.Ala498=
ENST00000464627.5:n.821T>C (FANCC)
NM_000136.2:c.1494T>C , LRG_497t1:c.1494T>C (FANCC) NP_000127.2:p.Ala498=
NM_001243743.1:c.1494T>C (FANCC) NP_001230672.1:p.Ala498=
XM_005251802.2:c.813T>C (FANCC) XP_005251859.1:p.Ala271=
XM_006717001.1:c.1329T>C (FANCC) XP_006717064.1:p.Ala443=
XM_011518365.1:c.1494T>C (FANCC) XP_011516667.1:p.Ala498=
XM_011518367.1:c.1038T>C (FANCC) XP_011516669.1:p.Ala346=
XM_011519121.1:c.2319+26325A>G (AOPEP) XP_011517423.1:n.2319+26325A>G
XM_005251802.3:c.813T>C (FANCC) XP_005251859.1:p.Ala271=
XM_006717001.3:c.1329T>C (FANCC) XP_006717064.1:p.Ala443=
XM_011518365.3:c.1494T>C (FANCC) XP_011516667.1:p.Ala498=
XM_011518367.2:c.1038T>C (FANCC) XP_011516669.1:p.Ala346=
XM_011519121.3:c.2319+26325A>G (AOPEP) XP_011517423.1:n.2319+26325A>G
XM_017014452.2:c.1038T>C (FANCC) XP_016869941.1:p.Ala346=
XM_017014453.1:c.1038T>C (FANCC) XP_016869942.1:p.Ala346=
XM_017014454.1:c.873T>C (FANCC) XP_016869943.1:p.Ala291=
XM_024447451.1:c.1494T>C (FANCC) XP_024303219.1:p.Ala498=
XR_001746847.1:n.523A>G
NM_000136.3:c.1494T>C (FANCC) MANE Select NP_000127.2:p.Ala498=
NM_001243743.2:c.1494T>C (FANCC) NP_001230672.1:p.Ala498=