Canonical Allele Identifier: CA2451515

Gene: RFT1

Linked Data

• ClinVar Variation Id: 2089939
• ClinVar RCV Id: RCV003005729
• dbSNP Id: rs777579636
• ExAC: 3:53157833 G / T
• gnomAD v2: 3-53157833-G-T
• gnomAD v4: 3-53123817-G-T
• MyVariant Identifiers: chr3:g.53157833G>T (hg19) ; chr3:g.53123817G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123817G>T , CM000665.2:g.53123817G>T	GRCh38
NC_000003.11:g.53157833G>T , CM000665.1:g.53157833G>T	GRCh37
NC_000003.10:g.53132873G>T	NCBI36
NG_009203.1:g.11638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.173C>A MANE Select	ENSP00000296292.3:p.Thr58Asn
ENST00000296292.7:c.173C>A	ENSP00000296292.3:p.Thr58Asn
ENST00000394738.7:c.150-1254C>A	ENSP00000378223.3:n.150-1254C>A
ENST00000467048.1:c.173C>A	ENSP00000420325.1:p.Thr58Asn
NM_052859.3:c.173C>A	NP_443091.1:p.Thr58Asn
XM_005265537.3:c.173C>A	XP_005265594.1:p.Thr58Asn
XM_006713384.2:c.173C>A	XP_006713447.1:p.Thr58Asn
XM_011534214.1:c.173C>A	XP_011532516.1:p.Thr58Asn
XM_011534215.1:c.173C>A	XP_011532517.1:p.Thr58Asn
XR_940507.1:n.232C>A
XM_005265537.4:c.173C>A	XP_005265594.1:p.Thr58Asn
XM_006713384.3:c.173C>A	XP_006713447.1:p.Thr58Asn
XM_011534214.2:c.173C>A	XP_011532516.1:p.Thr58Asn
XM_011534215.3:c.173C>A	XP_011532517.1:p.Thr58Asn
XM_011534216.3:c.-668C>A	XP_011532518.1:n.-668C>A
XM_017007460.1:c.173C>A	XP_016862949.1:p.Thr58Asn
XM_017007461.2:c.-668C>A	XP_016862950.1:n.-668C>A
XR_001740360.2:n.239C>A
NM_052859.4:c.173C>A MANE Select	NP_443091.1:p.Thr58Asn