Canonical Allele Identifier: CA353222553
Gene: RFT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53123743G>C , CM000665.2:g.53123743G>C GRCh38
NC_000003.11:g.53157759G>C , CM000665.1:g.53157759G>C GRCh37
NC_000003.10:g.53132799G>C NCBI36
NG_009203.1:g.11712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296292.8:c.247C>G MANE Select ENSP00000296292.3:p.Leu83Val
ENST00000296292.7:c.247C>G ENSP00000296292.3:p.Leu83Val
ENST00000394738.7:c.150-1180C>G ENSP00000378223.3:n.150-1180C>G
ENST00000467048.1:c.247C>G ENSP00000420325.1:p.Leu83Val
NM_052859.3:c.247C>G NP_443091.1:p.Leu83Val
XM_005265537.3:c.247C>G XP_005265594.1:p.Leu83Val
XM_006713384.2:c.247C>G XP_006713447.1:p.Leu83Val
XM_011534214.1:c.247C>G XP_011532516.1:p.Leu83Val
XM_011534215.1:c.247C>G XP_011532517.1:p.Leu83Val
XR_940507.1:n.306C>G
XM_005265537.4:c.247C>G XP_005265594.1:p.Leu83Val
XM_006713384.3:c.247C>G XP_006713447.1:p.Leu83Val
XM_011534214.2:c.247C>G XP_011532516.1:p.Leu83Val
XM_011534215.3:c.247C>G XP_011532517.1:p.Leu83Val
XM_011534216.3:c.-594C>G XP_011532518.1:n.-594C>G
XM_017007460.1:c.247C>G XP_016862949.1:p.Leu83Val
XM_017007461.2:c.-594C>G XP_016862950.1:n.-594C>G
XR_001740360.2:n.313C>G
NM_052859.4:c.247C>G MANE Select NP_443091.1:p.Leu83Val