Canonical Allele Identifier: CA2451504

Gene: RFT1

Linked Data

• dbSNP Id: rs370990354
• ExAC: 3:53157713 C / T
• gnomAD v2: 3-53157713-C-T
• gnomAD v3: 3-53123697-C-T
• gnomAD v4: 3-53123697-C-T
• MyVariant Identifiers: chr3:g.53157713C>T (hg19) ; chr3:g.53123697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123697C>T , CM000665.2:g.53123697C>T	GRCh38
NC_000003.11:g.53157713C>T , CM000665.1:g.53157713C>T	GRCh37
NC_000003.10:g.53132753C>T	NCBI36
NG_009203.1:g.11758G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.266+27G>A MANE Select	ENSP00000296292.3:n.266+27G>A
ENST00000296292.7:c.266+27G>A	ENSP00000296292.3:n.266+27G>A
ENST00000394738.7:c.150-1134G>A	ENSP00000378223.3:n.150-1134G>A
ENST00000467048.1:c.266+27G>A	ENSP00000420325.1:n.266+27G>A
NM_052859.3:c.266+27G>A	NP_443091.1:n.266+27G>A
XM_005265537.3:c.266+27G>A	XP_005265594.1:n.266+27G>A
XM_006713384.2:c.266+27G>A	XP_006713447.1:n.266+27G>A
XM_011534214.1:c.266+27G>A	XP_011532516.1:n.266+27G>A
XM_011534215.1:c.266+27G>A	XP_011532517.1:n.266+27G>A
XR_940507.1:n.325+27G>A
XM_005265537.4:c.266+27G>A	XP_005265594.1:n.266+27G>A
XM_006713384.3:c.266+27G>A	XP_006713447.1:n.266+27G>A
XM_011534214.2:c.266+27G>A	XP_011532516.1:n.266+27G>A
XM_011534215.3:c.266+27G>A	XP_011532517.1:n.266+27G>A
XM_011534216.3:c.-575+27G>A	XP_011532518.1:n.-575+27G>A
XM_017007460.1:c.266+27G>A	XP_016862949.1:n.266+27G>A
XM_017007461.2:c.-575+27G>A	XP_016862950.1:n.-575+27G>A
XR_001740360.2:n.332+27G>A
NM_052859.4:c.266+27G>A MANE Select	NP_443091.1:n.266+27G>A