Canonical Allele Identifier: CA16041338

Linked Data

ClinVar Variation Id: 371047
ClinVar RCV Id: RCV000409084
dbSNP Id: rs1057516963

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107101C>A , CM000671.2:g.95107101C>A GRCh38
NC_000009.11:g.97869383C>A , CM000671.1:g.97869383C>A GRCh37
NC_000009.10:g.96909204C>A NCBI36
NG_011707.1:g.215609G>T , LRG_497:g.215609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26321C>A (AOPEP)
ENST00000696260.1:n.2313G>T (FANCC)
ENST00000289081.8:c.1498G>T (FANCC) MANE Select ENSP00000289081.3:p.Gly500Ter
ENST00000375305.6:c.1498G>T (FANCC) ENSP00000364454.1:p.Gly500Ter
ENST00000649334.1:c.1643G>T (FANCC) ENSP00000497735.1:n.1643G>T
ENST00000289081.7:c.1498G>T (FANCC) ENSP00000289081.3:p.Gly500Ter
ENST00000375305.5:c.1498G>T (FANCC) ENSP00000364454.1:p.Gly500Ter
ENST00000464627.5:n.825G>T (FANCC)
NM_000136.2:c.1498G>T , LRG_497t1:c.1498G>T (FANCC) NP_000127.2:p.Gly500Ter
NM_001243743.1:c.1498G>T (FANCC) NP_001230672.1:p.Gly500Ter
XM_005251802.2:c.817G>T (FANCC) XP_005251859.1:p.Gly273Ter
XM_006717001.1:c.1333G>T (FANCC) XP_006717064.1:p.Gly445Ter
XM_011518365.1:c.1498G>T (FANCC) XP_011516667.1:p.Gly500Ter
XM_011518367.1:c.1042G>T (FANCC) XP_011516669.1:p.Gly348Ter
XM_011519121.1:c.2319+26321C>A (AOPEP) XP_011517423.1:n.2319+26321C>A
XM_005251802.3:c.817G>T (FANCC) XP_005251859.1:p.Gly273Ter
XM_006717001.3:c.1333G>T (FANCC) XP_006717064.1:p.Gly445Ter
XM_011518365.3:c.1498G>T (FANCC) XP_011516667.1:p.Gly500Ter
XM_011518367.2:c.1042G>T (FANCC) XP_011516669.1:p.Gly348Ter
XM_011519121.3:c.2319+26321C>A (AOPEP) XP_011517423.1:n.2319+26321C>A
XM_017014452.2:c.1042G>T (FANCC) XP_016869941.1:p.Gly348Ter
XM_017014453.1:c.1042G>T (FANCC) XP_016869942.1:p.Gly348Ter
XM_017014454.1:c.877G>T (FANCC) XP_016869943.1:p.Gly293Ter
XM_024447451.1:c.1498G>T (FANCC) XP_024303219.1:p.Gly500Ter
XR_001746847.1:n.519C>A
NM_000136.3:c.1498G>T (FANCC) MANE Select NP_000127.2:p.Gly500Ter
NM_001243743.2:c.1498G>T (FANCC) NP_001230672.1:p.Gly500Ter