Canonical Allele Identifier: CA353222812

Gene: RFT1

Linked Data

• dbSNP Id: rs1202222714
• gnomAD v2: 3-53157842-T-A
• gnomAD v4: 3-53123826-T-A
• MyVariant Identifiers: chr3:g.53157842T>A (hg19) ; chr3:g.53123826T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123826T>A , CM000665.2:g.53123826T>A	GRCh38
NC_000003.11:g.53157842T>A , CM000665.1:g.53157842T>A	GRCh37
NC_000003.10:g.53132882T>A	NCBI36
NG_009203.1:g.11629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.164A>T MANE Select	ENSP00000296292.3:p.Tyr55Phe
ENST00000296292.7:c.164A>T	ENSP00000296292.3:p.Tyr55Phe
ENST00000394738.7:c.150-1263A>T	ENSP00000378223.3:n.150-1263A>T
ENST00000467048.1:c.164A>T	ENSP00000420325.1:p.Tyr55Phe
NM_052859.3:c.164A>T	NP_443091.1:p.Tyr55Phe
XM_005265537.3:c.164A>T	XP_005265594.1:p.Tyr55Phe
XM_006713384.2:c.164A>T	XP_006713447.1:p.Tyr55Phe
XM_011534214.1:c.164A>T	XP_011532516.1:p.Tyr55Phe
XM_011534215.1:c.164A>T	XP_011532517.1:p.Tyr55Phe
XR_940507.1:n.223A>T
XM_005265537.4:c.164A>T	XP_005265594.1:p.Tyr55Phe
XM_006713384.3:c.164A>T	XP_006713447.1:p.Tyr55Phe
XM_011534214.2:c.164A>T	XP_011532516.1:p.Tyr55Phe
XM_011534215.3:c.164A>T	XP_011532517.1:p.Tyr55Phe
XM_011534216.3:c.-677A>T	XP_011532518.1:n.-677A>T
XM_017007460.1:c.164A>T	XP_016862949.1:p.Tyr55Phe
XM_017007461.2:c.-677A>T	XP_016862950.1:n.-677A>T
XR_001740360.2:n.230A>T
NM_052859.4:c.164A>T MANE Select	NP_443091.1:p.Tyr55Phe