Canonical Allele Identifier: CA2451514

Gene: RFT1

Linked Data

• ClinVar Variation Id: 2185915
• ClinVar RCV Id: RCV002619876
• dbSNP Id: rs777579636
• ExAC: 3:53157833 G / A
• gnomAD v2: 3-53157833-G-A
• gnomAD v3: 3-53123817-G-A
• gnomAD v4: 3-53123817-G-A
• MyVariant Identifiers: chr3:g.53157833G>A (hg19) ; chr3:g.53123817G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.173C>T MANE Select	ENSP00000296292.3:p.Thr58Ile
ENST00000296292.7:c.173C>T	ENSP00000296292.3:p.Thr58Ile
ENST00000394738.7:c.150-1254C>T	ENSP00000378223.3:n.150-1254C>T
ENST00000467048.1:c.173C>T	ENSP00000420325.1:p.Thr58Ile
NM_052859.3:c.173C>T	NP_443091.1:p.Thr58Ile
XM_005265537.3:c.173C>T	XP_005265594.1:p.Thr58Ile
XM_006713384.2:c.173C>T	XP_006713447.1:p.Thr58Ile
XM_011534214.1:c.173C>T	XP_011532516.1:p.Thr58Ile
XM_011534215.1:c.173C>T	XP_011532517.1:p.Thr58Ile
XR_940507.1:n.232C>T
XM_005265537.4:c.173C>T	XP_005265594.1:p.Thr58Ile
XM_006713384.3:c.173C>T	XP_006713447.1:p.Thr58Ile
XM_011534214.2:c.173C>T	XP_011532516.1:p.Thr58Ile
XM_011534215.3:c.173C>T	XP_011532517.1:p.Thr58Ile
XM_011534216.3:c.-668C>T	XP_011532518.1:n.-668C>T
XM_017007460.1:c.173C>T	XP_016862949.1:p.Thr58Ile
XM_017007461.2:c.-668C>T	XP_016862950.1:n.-668C>T
XR_001740360.2:n.239C>T
NM_052859.4:c.173C>T MANE Select	NP_443091.1:p.Thr58Ile