Canonical Allele Identifier: CA1048023098
Community Standard Title: NM_052859.4(RFT1):c.1459-14G>A
Gene: RFT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53092084C>T , CM000665.2:g.53092084C>T GRCh38
NC_000003.11:g.53126100C>T , CM000665.1:g.53126100C>T GRCh37
NC_000003.10:g.53101140C>T NCBI36
NG_009203.1:g.43371G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052859.4:c.1459-14G>A MANE Select NP_443091.1:n.1459-14G>A
ENST00000296292.8:c.1459-14G>A MANE Select ENSP00000296292.3:n.1459-14G>A
NM_052859.3:c.1459-14G>A NP_443091.1:n.1459-14G>A
ENST00000296292.7:c.1459-14G>A ENSP00000296292.3:n.1459-14G>A
ENST00000394738.7:c.1342-14G>A ENSP00000378223.3:n.1342-14G>A
ENST00000607203.1:c.74-6232G>A
ENST00000607283.5:c.323+285G>A
ENST00000607495.5:c.73+7297G>A
XM_006713384.2:c.1209-6232G>A XP_006713447.1:n.1209-6232G>A
XM_006713384.3:c.1209-6232G>A XP_006713447.1:n.1209-6232G>A
XM_011534214.1:c.1208+7297G>A XP_011532516.1:n.1208+7297G>A
XM_011534214.2:c.1208+7297G>A XP_011532516.1:n.1208+7297G>A
XM_011534215.1:c.1208+7297G>A XP_011532517.1:n.1208+7297G>A
XM_011534215.3:c.1208+7297G>A XP_011532517.1:n.1208+7297G>A
XM_011534216.1:c.802-14G>A XP_011532518.1:n.802-14G>A
XM_011534216.3:c.802-14G>A XP_011532518.1:n.802-14G>A
XM_017007460.1:c.1458+285G>A XP_016862949.1:n.1458+285G>A
XM_017007461.2:c.802-14G>A XP_016862950.1:n.802-14G>A
XR_001740360.2:n.1419-14G>A
XR_940507.1:n.1268-6232G>A