Canonical Allele Identifier: CA374105805

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107139A>T , CM000671.2:g.95107139A>T GRCh38
NC_000009.11:g.97869421A>T , CM000671.1:g.97869421A>T GRCh37
NC_000009.10:g.96909242A>T NCBI36
NG_011707.1:g.215571T>A , LRG_497:g.215571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26359A>T (AOPEP)
ENST00000696260.1:n.2275T>A (FANCC)
ENST00000289081.8:c.1460T>A (FANCC) MANE Select ENSP00000289081.3:p.Ile487Asn
ENST00000375305.6:c.1460T>A (FANCC) ENSP00000364454.1:p.Ile487Asn
ENST00000649334.1:c.1605T>A (FANCC) ENSP00000497735.1:n.1605T>A
ENST00000289081.7:c.1460T>A (FANCC) ENSP00000289081.3:p.Ile487Asn
ENST00000375305.5:c.1460T>A (FANCC) ENSP00000364454.1:p.Ile487Asn
ENST00000464627.5:n.787T>A (FANCC)
NM_000136.2:c.1460T>A , LRG_497t1:c.1460T>A (FANCC) NP_000127.2:p.Ile487Asn
NM_001243743.1:c.1460T>A (FANCC) NP_001230672.1:p.Ile487Asn
XM_005251802.2:c.779T>A (FANCC) XP_005251859.1:p.Ile260Asn
XM_006717001.1:c.1295T>A (FANCC) XP_006717064.1:p.Ile432Asn
XM_011518365.1:c.1460T>A (FANCC) XP_011516667.1:p.Ile487Asn
XM_011518367.1:c.1004T>A (FANCC) XP_011516669.1:p.Ile335Asn
XM_011519121.1:c.2319+26359A>T (AOPEP) XP_011517423.1:n.2319+26359A>T
XM_005251802.3:c.779T>A (FANCC) XP_005251859.1:p.Ile260Asn
XM_006717001.3:c.1295T>A (FANCC) XP_006717064.1:p.Ile432Asn
XM_011518365.3:c.1460T>A (FANCC) XP_011516667.1:p.Ile487Asn
XM_011518367.2:c.1004T>A (FANCC) XP_011516669.1:p.Ile335Asn
XM_011519121.3:c.2319+26359A>T (AOPEP) XP_011517423.1:n.2319+26359A>T
XM_017014452.2:c.1004T>A (FANCC) XP_016869941.1:p.Ile335Asn
XM_017014453.1:c.1004T>A (FANCC) XP_016869942.1:p.Ile335Asn
XM_017014454.1:c.839T>A (FANCC) XP_016869943.1:p.Ile280Asn
XM_024447451.1:c.1460T>A (FANCC) XP_024303219.1:p.Ile487Asn
XR_001746847.1:n.557A>T
NM_000136.3:c.1460T>A (FANCC) MANE Select NP_000127.2:p.Ile487Asn
NM_001243743.2:c.1460T>A (FANCC) NP_001230672.1:p.Ile487Asn