Canonical Allele Identifier: CA374104541

Linked Data

dbSNP Id: rs1293282237
gnomAD v2: 9-97864068-C-T
gnomAD v4: 9-95101786-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101786C>T , CM000671.2:g.95101786C>T GRCh38
NC_000009.11:g.97864068C>T , CM000671.1:g.97864068C>T GRCh37
NC_000009.10:g.96903889C>T NCBI36
NG_011707.1:g.220924G>A , LRG_497:g.220924G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+21006C>T (AOPEP)
ENST00000696260.1:n.2413G>A (FANCC)
ENST00000289081.8:c.1598G>A (FANCC) MANE Select ENSP00000289081.3:p.Trp533Ter
ENST00000375305.6:c.1598G>A (FANCC) ENSP00000364454.1:p.Trp533Ter
ENST00000649334.1:c.1743G>A (FANCC) ENSP00000497735.1:n.1743G>A
ENST00000289081.7:c.1598G>A (FANCC) ENSP00000289081.3:p.Trp533Ter
ENST00000375305.5:c.1598G>A (FANCC) ENSP00000364454.1:p.Trp533Ter
NM_000136.2:c.1598G>A , LRG_497t1:c.1598G>A (FANCC) NP_000127.2:p.Trp533Ter
NM_001243743.1:c.1598G>A (FANCC) NP_001230672.1:p.Trp533Ter
XM_005251802.2:c.917G>A (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.1:c.1433G>A (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.1:c.1598G>A (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.1:c.1142G>A (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.1:c.2319+21006C>T (AOPEP) XP_011517423.1:n.2319+21006C>T
XM_005251802.3:c.917G>A (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.3:c.1433G>A (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.3:c.1598G>A (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.2:c.1142G>A (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.3:c.2319+21006C>T (AOPEP) XP_011517423.1:n.2319+21006C>T
XM_017014452.2:c.1142G>A (FANCC) XP_016869941.1:p.Trp381Ter
XM_017014453.1:c.1142G>A (FANCC) XP_016869942.1:p.Trp381Ter
XM_017014454.1:c.977G>A (FANCC) XP_016869943.1:p.Trp326Ter
XM_024447451.1:c.1598G>A (FANCC) XP_024303219.1:p.Trp533Ter
NM_000136.3:c.1598G>A (FANCC) MANE Select NP_000127.2:p.Trp533Ter
NM_001243743.2:c.1598G>A (FANCC) NP_001230672.1:p.Trp533Ter