Canonical Allele Identifier: CA374104397

Linked Data

ClinVar Variation Id: 802491
ClinVar RCV Id: RCV000988192
dbSNP Id: rs1588008066

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101759C>T , CM000671.2:g.95101759C>T GRCh38
NC_000009.11:g.97864041C>T , CM000671.1:g.97864041C>T GRCh37
NC_000009.10:g.96903862C>T NCBI36
NG_011707.1:g.220951G>A , LRG_497:g.220951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+20979C>T (AOPEP)
ENST00000696260.1:n.2440G>A (FANCC)
ENST00000289081.8:c.1625G>A (FANCC) MANE Select ENSP00000289081.3:p.Arg542Lys
ENST00000375305.6:c.1625G>A (FANCC) ENSP00000364454.1:p.Arg542Lys
ENST00000649334.1:c.1770G>A (FANCC) ENSP00000497735.1:n.1770G>A
ENST00000289081.7:c.1625G>A (FANCC) ENSP00000289081.3:p.Arg542Lys
ENST00000375305.5:c.1625G>A (FANCC) ENSP00000364454.1:p.Arg542Lys
NM_000136.2:c.1625G>A , LRG_497t1:c.1625G>A (FANCC) NP_000127.2:p.Arg542Lys
NM_001243743.1:c.1625G>A (FANCC) NP_001230672.1:p.Arg542Lys
XM_005251802.2:c.944G>A (FANCC) XP_005251859.1:p.Arg315Lys
XM_006717001.1:c.1460G>A (FANCC) XP_006717064.1:p.Arg487Lys
XM_011518365.1:c.1625G>A (FANCC) XP_011516667.1:p.Arg542Lys
XM_011518367.1:c.1169G>A (FANCC) XP_011516669.1:p.Arg390Lys
XM_011519121.1:c.2319+20979C>T (AOPEP) XP_011517423.1:n.2319+20979C>T
XM_005251802.3:c.944G>A (FANCC) XP_005251859.1:p.Arg315Lys
XM_006717001.3:c.1460G>A (FANCC) XP_006717064.1:p.Arg487Lys
XM_011518365.3:c.1625G>A (FANCC) XP_011516667.1:p.Arg542Lys
XM_011518367.2:c.1169G>A (FANCC) XP_011516669.1:p.Arg390Lys
XM_011519121.3:c.2319+20979C>T (AOPEP) XP_011517423.1:n.2319+20979C>T
XM_017014452.2:c.1169G>A (FANCC) XP_016869941.1:p.Arg390Lys
XM_017014453.1:c.1169G>A (FANCC) XP_016869942.1:p.Arg390Lys
XM_017014454.1:c.1004G>A (FANCC) XP_016869943.1:p.Arg335Lys
XM_024447451.1:c.1625G>A (FANCC) XP_024303219.1:p.Arg542Lys
NM_000136.3:c.1625G>A (FANCC) MANE Select NP_000127.2:p.Arg542Lys
NM_001243743.2:c.1625G>A (FANCC) NP_001230672.1:p.Arg542Lys