Canonical Allele Identifier: CA2843647073

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95106992C>A , CM000671.2:g.95106992C>A GRCh38
NC_000009.11:g.97869274C>A , CM000671.1:g.97869274C>A GRCh37
NC_000009.10:g.96909095C>A NCBI36
NG_011707.1:g.215718G>T , LRG_497:g.215718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26212C>A (AOPEP)
ENST00000696260.1:n.2348+74G>T (FANCC)
ENST00000289081.8:c.1533+74G>T (FANCC) MANE Select ENSP00000289081.3:n.1533+74G>T
ENST00000375305.6:c.1533+74G>T (FANCC) ENSP00000364454.1:n.1533+74G>T
ENST00000649334.1:c.1678+74G>T (FANCC) ENSP00000497735.1:n.1678+74G>T
ENST00000289081.7:c.1533+74G>T (FANCC) ENSP00000289081.3:n.1533+74G>T
ENST00000375305.5:c.1533+74G>T (FANCC) ENSP00000364454.1:n.1533+74G>T
NM_000136.2:c.1533+74G>T , LRG_497t1:c.1533+74G>T (FANCC) NP_000127.2:n.1533+74G>T
NM_001243743.1:c.1533+74G>T (FANCC) NP_001230672.1:n.1533+74G>T
XM_005251802.2:c.852+74G>T (FANCC) XP_005251859.1:n.852+74G>T
XM_006717001.1:c.1368+74G>T (FANCC) XP_006717064.1:n.1368+74G>T
XM_011518365.1:c.1533+74G>T (FANCC) XP_011516667.1:n.1533+74G>T
XM_011518367.1:c.1077+74G>T (FANCC) XP_011516669.1:n.1077+74G>T
XM_011519121.1:c.2319+26212C>A (AOPEP) XP_011517423.1:n.2319+26212C>A
XM_005251802.3:c.852+74G>T (FANCC) XP_005251859.1:n.852+74G>T
XM_006717001.3:c.1368+74G>T (FANCC) XP_006717064.1:n.1368+74G>T
XM_011518365.3:c.1533+74G>T (FANCC) XP_011516667.1:n.1533+74G>T
XM_011518367.2:c.1077+74G>T (FANCC) XP_011516669.1:n.1077+74G>T
XM_011519121.3:c.2319+26212C>A (AOPEP) XP_011517423.1:n.2319+26212C>A
XM_017014452.2:c.1077+74G>T (FANCC) XP_016869941.1:n.1077+74G>T
XM_017014453.1:c.1077+74G>T (FANCC) XP_016869942.1:n.1077+74G>T
XM_017014454.1:c.912+74G>T (FANCC) XP_016869943.1:n.912+74G>T
XM_024447451.1:c.1533+74G>T (FANCC) XP_024303219.1:n.1533+74G>T
XR_001746847.1:n.410C>A
NM_000136.3:c.1533+74G>T (FANCC) MANE Select NP_000127.2:n.1533+74G>T
NM_001243743.2:c.1533+74G>T (FANCC) NP_001230672.1:n.1533+74G>T