Canonical Allele Identifier: CA10619261

Gene: RFT1

Linked Data

• ClinVar Variation Id: 346152
• ClinVar RCV Id: RCV000396507
• dbSNP Id: rs886058715
• gnomAD v4: 3-53089476-C-T
• MyVariant Identifiers: chr3:g.53123492C>T (hg19) ; chr3:g.53089476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53089476C>T , CM000665.2:g.53089476C>T	GRCh38
NC_000003.11:g.53123492C>T , CM000665.1:g.53123492C>T	GRCh37
NC_000003.10:g.53098532C>T	NCBI36
NG_009203.1:g.45979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.*2427G>A MANE Select	ENSP00000296292.3:n.*2427G>A
ENST00000296292.7:c.*2427G>A	ENSP00000296292.3:n.*2427G>A
ENST00000607203.1:c.74-3624G>A
ENST00000607283.5:c.323+2893G>A
ENST00000607495.5:c.73+9905G>A
NM_052859.3:c.*2427G>A	NP_443091.1:n.*2427G>A
XM_006713384.2:c.1209-3624G>A	XP_006713447.1:n.1209-3624G>A
XM_011534214.1:c.1208+9905G>A	XP_011532516.1:n.1208+9905G>A
XM_011534215.1:c.1208+9905G>A	XP_011532517.1:n.1208+9905G>A
XM_011534216.1:c.*2427G>A	XP_011532518.1:n.*2427G>A
XR_940507.1:n.1268-3624G>A
XM_006713384.3:c.1209-3624G>A	XP_006713447.1:n.1209-3624G>A
XM_011534214.2:c.1208+9905G>A	XP_011532516.1:n.1208+9905G>A
XM_011534215.3:c.1208+9905G>A	XP_011532517.1:n.1208+9905G>A
XM_017007460.1:c.1458+2893G>A	XP_016862949.1:n.1458+2893G>A
XR_001740360.2:n.4013G>A
NM_052859.4:c.*2427G>A MANE Select	NP_443091.1:n.*2427G>A