Canonical Allele Identifier: CA374105784

Linked Data

dbSNP Id: rs2134455154

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107136C>A , CM000671.2:g.95107136C>A GRCh38
NC_000009.11:g.97869418C>A , CM000671.1:g.97869418C>A GRCh37
NC_000009.10:g.96909239C>A NCBI36
NG_011707.1:g.215574G>T , LRG_497:g.215574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26356C>A (AOPEP)
ENST00000696260.1:n.2278G>T (FANCC)
ENST00000289081.8:c.1463G>T (FANCC) MANE Select ENSP00000289081.3:p.Arg488Met
ENST00000375305.6:c.1463G>T (FANCC) ENSP00000364454.1:p.Arg488Met
ENST00000649334.1:c.1608G>T (FANCC) ENSP00000497735.1:n.1608G>T
ENST00000289081.7:c.1463G>T (FANCC) ENSP00000289081.3:p.Arg488Met
ENST00000375305.5:c.1463G>T (FANCC) ENSP00000364454.1:p.Arg488Met
ENST00000464627.5:n.790G>T (FANCC)
NM_000136.2:c.1463G>T , LRG_497t1:c.1463G>T (FANCC) NP_000127.2:p.Arg488Met
NM_001243743.1:c.1463G>T (FANCC) NP_001230672.1:p.Arg488Met
XM_005251802.2:c.782G>T (FANCC) XP_005251859.1:p.Arg261Met
XM_006717001.1:c.1298G>T (FANCC) XP_006717064.1:p.Arg433Met
XM_011518365.1:c.1463G>T (FANCC) XP_011516667.1:p.Arg488Met
XM_011518367.1:c.1007G>T (FANCC) XP_011516669.1:p.Arg336Met
XM_011519121.1:c.2319+26356C>A (AOPEP) XP_011517423.1:n.2319+26356C>A
XM_005251802.3:c.782G>T (FANCC) XP_005251859.1:p.Arg261Met
XM_006717001.3:c.1298G>T (FANCC) XP_006717064.1:p.Arg433Met
XM_011518365.3:c.1463G>T (FANCC) XP_011516667.1:p.Arg488Met
XM_011518367.2:c.1007G>T (FANCC) XP_011516669.1:p.Arg336Met
XM_011519121.3:c.2319+26356C>A (AOPEP) XP_011517423.1:n.2319+26356C>A
XM_017014452.2:c.1007G>T (FANCC) XP_016869941.1:p.Arg336Met
XM_017014453.1:c.1007G>T (FANCC) XP_016869942.1:p.Arg336Met
XM_017014454.1:c.842G>T (FANCC) XP_016869943.1:p.Arg281Met
XM_024447451.1:c.1463G>T (FANCC) XP_024303219.1:p.Arg488Met
XR_001746847.1:n.554C>A
NM_000136.3:c.1463G>T (FANCC) MANE Select NP_000127.2:p.Arg488Met
NM_001243743.2:c.1463G>T (FANCC) NP_001230672.1:p.Arg488Met