Canonical Allele Identifier: CA299226

Linked Data

ClinVar Variation Id: 182501
dbSNP Id: rs144278080
gnomAD v2: 9-97869372-C-T
gnomAD v3: 9-95107090-C-T
gnomAD v4: 9-95107090-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107090C>T , CM000671.2:g.95107090C>T GRCh38
NC_000009.11:g.97869372C>T , CM000671.1:g.97869372C>T GRCh37
NC_000009.10:g.96909193C>T NCBI36
NG_011707.1:g.215620G>A , LRG_497:g.215620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26310C>T (AOPEP)
ENST00000696260.1:n.2324G>A (FANCC)
ENST00000289081.8:c.1509G>A (FANCC) MANE Select ENSP00000289081.3:p.Thr503=
ENST00000375305.6:c.1509G>A (FANCC) ENSP00000364454.1:p.Thr503=
ENST00000649334.1:c.1654G>A (FANCC) ENSP00000497735.1:n.1654G>A
ENST00000289081.7:c.1509G>A (FANCC) ENSP00000289081.3:p.Thr503=
ENST00000375305.5:c.1509G>A (FANCC) ENSP00000364454.1:p.Thr503=
NM_000136.2:c.1509G>A , LRG_497t1:c.1509G>A (FANCC) NP_000127.2:p.Thr503=
NM_001243743.1:c.1509G>A (FANCC) NP_001230672.1:p.Thr503=
XM_005251802.2:c.828G>A (FANCC) XP_005251859.1:p.Thr276=
XM_006717001.1:c.1344G>A (FANCC) XP_006717064.1:p.Thr448=
XM_011518365.1:c.1509G>A (FANCC) XP_011516667.1:p.Thr503=
XM_011518367.1:c.1053G>A (FANCC) XP_011516669.1:p.Thr351=
XM_011519121.1:c.2319+26310C>T (AOPEP) XP_011517423.1:n.2319+26310C>T
XM_005251802.3:c.828G>A (FANCC) XP_005251859.1:p.Thr276=
XM_006717001.3:c.1344G>A (FANCC) XP_006717064.1:p.Thr448=
XM_011518365.3:c.1509G>A (FANCC) XP_011516667.1:p.Thr503=
XM_011518367.2:c.1053G>A (FANCC) XP_011516669.1:p.Thr351=
XM_011519121.3:c.2319+26310C>T (AOPEP) XP_011517423.1:n.2319+26310C>T
XM_017014452.2:c.1053G>A (FANCC) XP_016869941.1:p.Thr351=
XM_017014453.1:c.1053G>A (FANCC) XP_016869942.1:p.Thr351=
XM_017014454.1:c.888G>A (FANCC) XP_016869943.1:p.Thr296=
XM_024447451.1:c.1509G>A (FANCC) XP_024303219.1:p.Thr503=
XR_001746847.1:n.508C>T
NM_000136.3:c.1509G>A (FANCC) MANE Select NP_000127.2:p.Thr503=
NM_001243743.2:c.1509G>A (FANCC) NP_001230672.1:p.Thr503=