Canonical Allele Identifier: CA374105733

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107127A>G , CM000671.2:g.95107127A>G GRCh38
NC_000009.11:g.97869409A>G , CM000671.1:g.97869409A>G GRCh37
NC_000009.10:g.96909230A>G NCBI36
NG_011707.1:g.215583T>C , LRG_497:g.215583T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26347A>G (AOPEP)
ENST00000696260.1:n.2287T>C (FANCC)
ENST00000289081.8:c.1472T>C (FANCC) MANE Select ENSP00000289081.3:p.Leu491Pro
ENST00000375305.6:c.1472T>C (FANCC) ENSP00000364454.1:p.Leu491Pro
ENST00000649334.1:c.1617T>C (FANCC) ENSP00000497735.1:n.1617T>C
ENST00000289081.7:c.1472T>C (FANCC) ENSP00000289081.3:p.Leu491Pro
ENST00000375305.5:c.1472T>C (FANCC) ENSP00000364454.1:p.Leu491Pro
ENST00000464627.5:n.799T>C (FANCC)
NM_000136.2:c.1472T>C , LRG_497t1:c.1472T>C (FANCC) NP_000127.2:p.Leu491Pro
NM_001243743.1:c.1472T>C (FANCC) NP_001230672.1:p.Leu491Pro
XM_005251802.2:c.791T>C (FANCC) XP_005251859.1:p.Leu264Pro
XM_006717001.1:c.1307T>C (FANCC) XP_006717064.1:p.Leu436Pro
XM_011518365.1:c.1472T>C (FANCC) XP_011516667.1:p.Leu491Pro
XM_011518367.1:c.1016T>C (FANCC) XP_011516669.1:p.Leu339Pro
XM_011519121.1:c.2319+26347A>G (AOPEP) XP_011517423.1:n.2319+26347A>G
XM_005251802.3:c.791T>C (FANCC) XP_005251859.1:p.Leu264Pro
XM_006717001.3:c.1307T>C (FANCC) XP_006717064.1:p.Leu436Pro
XM_011518365.3:c.1472T>C (FANCC) XP_011516667.1:p.Leu491Pro
XM_011518367.2:c.1016T>C (FANCC) XP_011516669.1:p.Leu339Pro
XM_011519121.3:c.2319+26347A>G (AOPEP) XP_011517423.1:n.2319+26347A>G
XM_017014452.2:c.1016T>C (FANCC) XP_016869941.1:p.Leu339Pro
XM_017014453.1:c.1016T>C (FANCC) XP_016869942.1:p.Leu339Pro
XM_017014454.1:c.851T>C (FANCC) XP_016869943.1:p.Leu284Pro
XM_024447451.1:c.1472T>C (FANCC) XP_024303219.1:p.Leu491Pro
XR_001746847.1:n.545A>G
NM_000136.3:c.1472T>C (FANCC) MANE Select NP_000127.2:p.Leu491Pro
NM_001243743.2:c.1472T>C (FANCC) NP_001230672.1:p.Leu491Pro