Canonical Allele Identifier: CA5137335

Linked Data

ClinVar Variation Id: 234504
dbSNP Id: rs199739450
gnomAD v2: 9-97869456-T-C
gnomAD v3: 9-95107174-T-C
gnomAD v4: 9-95107174-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107174T>C , CM000671.2:g.95107174T>C GRCh38
NC_000009.11:g.97869456T>C , CM000671.1:g.97869456T>C GRCh37
NC_000009.10:g.96909277T>C NCBI36
NG_011707.1:g.215536A>G , LRG_497:g.215536A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26394T>C (AOPEP)
ENST00000696260.1:n.2240A>G (FANCC)
ENST00000289081.8:c.1425A>G (FANCC) MANE Select ENSP00000289081.3:p.Thr475=
ENST00000375305.6:c.1425A>G (FANCC) ENSP00000364454.1:p.Thr475=
ENST00000649334.1:c.1570A>G (FANCC) ENSP00000497735.1:n.1570A>G
ENST00000289081.7:c.1425A>G (FANCC) ENSP00000289081.3:p.Thr475=
ENST00000375305.5:c.1425A>G (FANCC) ENSP00000364454.1:p.Thr475=
ENST00000464627.5:n.752A>G (FANCC)
NM_000136.2:c.1425A>G , LRG_497t1:c.1425A>G (FANCC) NP_000127.2:p.Thr475=
NM_001243743.1:c.1425A>G (FANCC) NP_001230672.1:p.Thr475=
XM_005251802.2:c.744A>G (FANCC) XP_005251859.1:p.Thr248=
XM_006717001.1:c.1260A>G (FANCC) XP_006717064.1:p.Thr420=
XM_011518365.1:c.1425A>G (FANCC) XP_011516667.1:p.Thr475=
XM_011518367.1:c.969A>G (FANCC) XP_011516669.1:p.Thr323=
XM_011519121.1:c.2319+26394T>C (AOPEP) XP_011517423.1:n.2319+26394T>C
XM_005251802.3:c.744A>G (FANCC) XP_005251859.1:p.Thr248=
XM_006717001.3:c.1260A>G (FANCC) XP_006717064.1:p.Thr420=
XM_011518365.3:c.1425A>G (FANCC) XP_011516667.1:p.Thr475=
XM_011518367.2:c.969A>G (FANCC) XP_011516669.1:p.Thr323=
XM_011519121.3:c.2319+26394T>C (AOPEP) XP_011517423.1:n.2319+26394T>C
XM_017014452.2:c.969A>G (FANCC) XP_016869941.1:p.Thr323=
XM_017014453.1:c.969A>G (FANCC) XP_016869942.1:p.Thr323=
XM_017014454.1:c.804A>G (FANCC) XP_016869943.1:p.Thr268=
XM_024447451.1:c.1425A>G (FANCC) XP_024303219.1:p.Thr475=
XR_001746847.1:n.592T>C
NM_000136.3:c.1425A>G (FANCC) MANE Select NP_000127.2:p.Thr475=
NM_001243743.2:c.1425A>G (FANCC) NP_001230672.1:p.Thr475=