Canonical Allele Identifier: CA10617011

Gene: RFT1

Linked Data

• ClinVar Variation Id: 346163
• ClinVar RCV Id: RCV000365129
• dbSNP Id: rs114029473
• gnomAD v2: 3-53124116-A-T
• gnomAD v3: 3-53090100-A-T
• gnomAD v4: 3-53090100-A-T
• MyVariant Identifiers: chr3:g.53124116A>T (hg19) ; chr3:g.53090100A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53090100A>T , CM000665.2:g.53090100A>T	GRCh38
NC_000003.11:g.53124116A>T , CM000665.1:g.53124116A>T	GRCh37
NC_000003.10:g.53099156A>T	NCBI36
NG_009203.1:g.45355T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.*1803T>A MANE Select	ENSP00000296292.3:n.*1803T>A
ENST00000296292.7:c.*1803T>A	ENSP00000296292.3:n.*1803T>A
ENST00000607203.1:c.74-4248T>A
ENST00000607283.5:c.323+2269T>A
ENST00000607495.5:c.73+9281T>A
NM_052859.3:c.*1803T>A	NP_443091.1:n.*1803T>A
XM_006713384.2:c.1209-4248T>A	XP_006713447.1:n.1209-4248T>A
XM_011534214.1:c.1208+9281T>A	XP_011532516.1:n.1208+9281T>A
XM_011534215.1:c.1208+9281T>A	XP_011532517.1:n.1208+9281T>A
XM_011534216.1:c.*1803T>A	XP_011532518.1:n.*1803T>A
XR_940507.1:n.1268-4248T>A
XM_006713384.3:c.1209-4248T>A	XP_006713447.1:n.1209-4248T>A
XM_011534214.2:c.1208+9281T>A	XP_011532516.1:n.1208+9281T>A
XM_011534215.3:c.1208+9281T>A	XP_011532517.1:n.1208+9281T>A
XM_017007460.1:c.1458+2269T>A	XP_016862949.1:n.1458+2269T>A
XR_001740360.2:n.3389T>A
NM_052859.4:c.*1803T>A MANE Select	NP_443091.1:n.*1803T>A