Canonical Allele Identifier: CA2739278114

Gene: RFT1

Linked Data

• ClinVar Variation Id: 2815109
• ClinVar RCV Id: RCV003601595

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123704C>T , CM000665.2:g.53123704C>T	GRCh38
NC_000003.11:g.53157720C>T , CM000665.1:g.53157720C>T	GRCh37
NC_000003.10:g.53132760C>T	NCBI36
NG_009203.1:g.11751G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.266+20G>A MANE Select	ENSP00000296292.3:n.266+20G>A
ENST00000296292.7:c.266+20G>A	ENSP00000296292.3:n.266+20G>A
ENST00000394738.7:c.150-1141G>A	ENSP00000378223.3:n.150-1141G>A
ENST00000467048.1:c.266+20G>A	ENSP00000420325.1:n.266+20G>A
NM_052859.3:c.266+20G>A	NP_443091.1:n.266+20G>A
XM_005265537.3:c.266+20G>A	XP_005265594.1:n.266+20G>A
XM_006713384.2:c.266+20G>A	XP_006713447.1:n.266+20G>A
XM_011534214.1:c.266+20G>A	XP_011532516.1:n.266+20G>A
XM_011534215.1:c.266+20G>A	XP_011532517.1:n.266+20G>A
XR_940507.1:n.325+20G>A
XM_005265537.4:c.266+20G>A	XP_005265594.1:n.266+20G>A
XM_006713384.3:c.266+20G>A	XP_006713447.1:n.266+20G>A
XM_011534214.2:c.266+20G>A	XP_011532516.1:n.266+20G>A
XM_011534215.3:c.266+20G>A	XP_011532517.1:n.266+20G>A
XM_011534216.3:c.-575+20G>A	XP_011532518.1:n.-575+20G>A
XM_017007460.1:c.266+20G>A	XP_016862949.1:n.266+20G>A
XM_017007461.2:c.-575+20G>A	XP_016862950.1:n.-575+20G>A
XR_001740360.2:n.332+20G>A
NM_052859.4:c.266+20G>A MANE Select	NP_443091.1:n.266+20G>A