Canonical Allele Identifier: CA1865462110

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107067A= , CM000671.2:g.95107067A= GRCh38
NC_000009.11:g.97869349A= , CM000671.1:g.97869349A= GRCh37
NC_000009.10:g.96909170A= NCBI36
NG_011707.1:g.215643T= , LRG_497:g.215643T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26287A= (AOPEP)
ENST00000696260.1:n.2347T= (FANCC)
ENST00000289081.8:c.1532T= (FANCC) MANE Select ENSP00000289081.3:p.Leu511=
ENST00000375305.6:c.1532T= (FANCC) ENSP00000364454.1:p.Leu511=
ENST00000649334.1:c.1677T= (FANCC) ENSP00000497735.1:n.1677T=
ENST00000289081.7:c.1532T= (FANCC) ENSP00000289081.3:p.Leu511=
ENST00000375305.5:c.1532T= (FANCC) ENSP00000364454.1:p.Leu511=
NM_000136.2:c.1532T= , LRG_497t1:c.1532T= (FANCC) NP_000127.2:p.Leu511=
NM_001243743.1:c.1532T= (FANCC) NP_001230672.1:p.Leu511=
XM_005251802.2:c.851T= (FANCC) XP_005251859.1:p.Leu284=
XM_006717001.1:c.1367T= (FANCC) XP_006717064.1:p.Leu456=
XM_011518365.1:c.1532T= (FANCC) XP_011516667.1:p.Leu511=
XM_011518367.1:c.1076T= (FANCC) XP_011516669.1:p.Leu359=
XM_011519121.1:c.2319+26287A= (AOPEP) XP_011517423.1:n.2319+26287A=
XM_005251802.3:c.851T= (FANCC) XP_005251859.1:p.Leu284=
XM_006717001.3:c.1367T= (FANCC) XP_006717064.1:p.Leu456=
XM_011518365.3:c.1532T= (FANCC) XP_011516667.1:p.Leu511=
XM_011518367.2:c.1076T= (FANCC) XP_011516669.1:p.Leu359=
XM_011519121.3:c.2319+26287A= (AOPEP) XP_011517423.1:n.2319+26287A=
XM_017014452.2:c.1076T= (FANCC) XP_016869941.1:p.Leu359=
XM_017014453.1:c.1076T= (FANCC) XP_016869942.1:p.Leu359=
XM_017014454.1:c.911T= (FANCC) XP_016869943.1:p.Leu304=
XM_024447451.1:c.1532T= (FANCC) XP_024303219.1:p.Leu511=
XR_001746847.1:n.485A=
NM_000136.3:c.1532T= (FANCC) MANE Select NP_000127.2:p.Leu511=
NM_001243743.2:c.1532T= (FANCC) NP_001230672.1:p.Leu511=