Canonical Allele Identifier: CA251606
Gene: RFT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 785
dbSNP Id: rs118203913
gnomAD v2: 3-53157807-G-A
gnomAD v3: 3-53123791-G-A
gnomAD v4: 3-53123791-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53123791G>A , CM000665.2:g.53123791G>A GRCh38
NC_000003.11:g.53157807G>A , CM000665.1:g.53157807G>A GRCh37
NC_000003.10:g.53132847G>A NCBI36
NG_009203.1:g.11664C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296292.8:c.199C>T MANE Select ENSP00000296292.3:p.Arg67Cys
ENST00000296292.7:c.199C>T ENSP00000296292.3:p.Arg67Cys
ENST00000394738.7:c.150-1228C>T ENSP00000378223.3:n.150-1228C>T
ENST00000467048.1:c.199C>T ENSP00000420325.1:p.Arg67Cys
NM_052859.3:c.199C>T NP_443091.1:p.Arg67Cys
XM_005265537.3:c.199C>T XP_005265594.1:p.Arg67Cys
XM_006713384.2:c.199C>T XP_006713447.1:p.Arg67Cys
XM_011534214.1:c.199C>T XP_011532516.1:p.Arg67Cys
XM_011534215.1:c.199C>T XP_011532517.1:p.Arg67Cys
XR_940507.1:n.258C>T
XM_005265537.4:c.199C>T XP_005265594.1:p.Arg67Cys
XM_006713384.3:c.199C>T XP_006713447.1:p.Arg67Cys
XM_011534214.2:c.199C>T XP_011532516.1:p.Arg67Cys
XM_011534215.3:c.199C>T XP_011532517.1:p.Arg67Cys
XM_011534216.3:c.-642C>T XP_011532518.1:n.-642C>T
XM_017007460.1:c.199C>T XP_016862949.1:p.Arg67Cys
XM_017007461.2:c.-642C>T XP_016862950.1:n.-642C>T
XR_001740360.2:n.265C>T
NM_052859.4:c.199C>T MANE Select NP_443091.1:p.Arg67Cys