Canonical Allele Identifier: CA1365161521
Gene: RFT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53091569T>G , CM000665.2:g.53091569T>G GRCh38
NC_000003.11:g.53125585T>G , CM000665.1:g.53125585T>G GRCh37
NC_000003.10:g.53100625T>G NCBI36
NG_009203.1:g.43886A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296292.8:c.*334A>C MANE Select ENSP00000296292.3:n.*334A>C
ENST00000296292.7:c.*334A>C ENSP00000296292.3:n.*334A>C
ENST00000607203.1:c.74-5717A>C
ENST00000607283.5:c.323+800A>C
ENST00000607495.5:c.73+7812A>C
NM_052859.3:c.*334A>C NP_443091.1:n.*334A>C
XM_006713384.2:c.1209-5717A>C XP_006713447.1:n.1209-5717A>C
XM_011534214.1:c.1208+7812A>C XP_011532516.1:n.1208+7812A>C
XM_011534215.1:c.1208+7812A>C XP_011532517.1:n.1208+7812A>C
XM_011534216.1:c.*334A>C XP_011532518.1:n.*334A>C
XR_940507.1:n.1268-5717A>C
XM_006713384.3:c.1209-5717A>C XP_006713447.1:n.1209-5717A>C
XM_011534214.2:c.1208+7812A>C XP_011532516.1:n.1208+7812A>C
XM_011534215.3:c.1208+7812A>C XP_011532517.1:n.1208+7812A>C
XM_011534216.3:c.*334A>C XP_011532518.1:n.*334A>C
XM_017007460.1:c.1458+800A>C XP_016862949.1:n.1458+800A>C
XM_017007461.2:c.*334A>C XP_016862950.1:n.*334A>C
XR_001740360.2:n.1920A>C
NM_052859.4:c.*334A>C MANE Select NP_443091.1:n.*334A>C