Canonical Allele Identifier: CA2451512

Gene: RFT1

Linked Data

• dbSNP Id: rs778342377
• ExAC: 3:53157816 C / G
• gnomAD v2: 3-53157816-C-G
• gnomAD v4: 3-53123800-C-G
• COSMIC: COSM6242635
• MyVariant Identifiers: chr3:g.53157816C>G (hg19) ; chr3:g.53123800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123800C>G , CM000665.2:g.53123800C>G	GRCh38
NC_000003.11:g.53157816C>G , CM000665.1:g.53157816C>G	GRCh37
NC_000003.10:g.53132856C>G	NCBI36
NG_009203.1:g.11655G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.190G>C MANE Select	ENSP00000296292.3:p.Glu64Gln
ENST00000296292.7:c.190G>C	ENSP00000296292.3:p.Glu64Gln
ENST00000394738.7:c.150-1237G>C	ENSP00000378223.3:n.150-1237G>C
ENST00000467048.1:c.190G>C	ENSP00000420325.1:p.Glu64Gln
NM_052859.3:c.190G>C	NP_443091.1:p.Glu64Gln
XM_005265537.3:c.190G>C	XP_005265594.1:p.Glu64Gln
XM_006713384.2:c.190G>C	XP_006713447.1:p.Glu64Gln
XM_011534214.1:c.190G>C	XP_011532516.1:p.Glu64Gln
XM_011534215.1:c.190G>C	XP_011532517.1:p.Glu64Gln
XR_940507.1:n.249G>C
XM_005265537.4:c.190G>C	XP_005265594.1:p.Glu64Gln
XM_006713384.3:c.190G>C	XP_006713447.1:p.Glu64Gln
XM_011534214.2:c.190G>C	XP_011532516.1:p.Glu64Gln
XM_011534215.3:c.190G>C	XP_011532517.1:p.Glu64Gln
XM_011534216.3:c.-651G>C	XP_011532518.1:n.-651G>C
XM_017007460.1:c.190G>C	XP_016862949.1:p.Glu64Gln
XM_017007461.2:c.-651G>C	XP_016862950.1:n.-651G>C
XR_001740360.2:n.256G>C
NM_052859.4:c.190G>C MANE Select	NP_443091.1:p.Glu64Gln