Canonical Allele Identifier: CA353222599
Gene: RFT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53123762C>G , CM000665.2:g.53123762C>G GRCh38
NC_000003.11:g.53157778C>G , CM000665.1:g.53157778C>G GRCh37
NC_000003.10:g.53132818C>G NCBI36
NG_009203.1:g.11693G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296292.8:c.228G>C MANE Select ENSP00000296292.3:p.Gln76His
ENST00000296292.7:c.228G>C ENSP00000296292.3:p.Gln76His
ENST00000394738.7:c.150-1199G>C ENSP00000378223.3:n.150-1199G>C
ENST00000467048.1:c.228G>C ENSP00000420325.1:p.Gln76His
NM_052859.3:c.228G>C NP_443091.1:p.Gln76His
XM_005265537.3:c.228G>C XP_005265594.1:p.Gln76His
XM_006713384.2:c.228G>C XP_006713447.1:p.Gln76His
XM_011534214.1:c.228G>C XP_011532516.1:p.Gln76His
XM_011534215.1:c.228G>C XP_011532517.1:p.Gln76His
XR_940507.1:n.287G>C
XM_005265537.4:c.228G>C XP_005265594.1:p.Gln76His
XM_006713384.3:c.228G>C XP_006713447.1:p.Gln76His
XM_011534214.2:c.228G>C XP_011532516.1:p.Gln76His
XM_011534215.3:c.228G>C XP_011532517.1:p.Gln76His
XM_011534216.3:c.-613G>C XP_011532518.1:n.-613G>C
XM_017007460.1:c.228G>C XP_016862949.1:p.Gln76His
XM_017007461.2:c.-613G>C XP_016862950.1:n.-613G>C
XR_001740360.2:n.294G>C
NM_052859.4:c.228G>C MANE Select NP_443091.1:p.Gln76His