Canonical Allele Identifier: CA10616432

Gene: RFT1

Linked Data

• ClinVar Variation Id: 346171
• ClinVar RCV Id: RCV000337541
• dbSNP Id: rs115646874
• gnomAD v2: 3-53125274-G-A
• gnomAD v3: 3-53091258-G-A
• gnomAD v4: 3-53091258-G-A
• MyVariant Identifiers: chr3:g.53125274G>A (hg19) ; chr3:g.53091258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53091258G>A , CM000665.2:g.53091258G>A	GRCh38
NC_000003.11:g.53125274G>A , CM000665.1:g.53125274G>A	GRCh37
NC_000003.10:g.53100314G>A	NCBI36
NG_009203.1:g.44197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.*645C>T MANE Select	ENSP00000296292.3:n.*645C>T
ENST00000296292.7:c.*645C>T	ENSP00000296292.3:n.*645C>T
ENST00000607203.1:c.74-5406C>T
ENST00000607283.5:c.323+1111C>T
ENST00000607495.5:c.73+8123C>T
NM_052859.3:c.*645C>T	NP_443091.1:n.*645C>T
XM_006713384.2:c.1209-5406C>T	XP_006713447.1:n.1209-5406C>T
XM_011534214.1:c.1208+8123C>T	XP_011532516.1:n.1208+8123C>T
XM_011534215.1:c.1208+8123C>T	XP_011532517.1:n.1208+8123C>T
XM_011534216.1:c.*645C>T	XP_011532518.1:n.*645C>T
XR_940507.1:n.1268-5406C>T
XM_006713384.3:c.1209-5406C>T	XP_006713447.1:n.1209-5406C>T
XM_011534214.2:c.1208+8123C>T	XP_011532516.1:n.1208+8123C>T
XM_011534215.3:c.1208+8123C>T	XP_011532517.1:n.1208+8123C>T
XM_011534216.3:c.*645C>T	XP_011532518.1:n.*645C>T
XM_017007460.1:c.1458+1111C>T	XP_016862949.1:n.1458+1111C>T
XM_017007461.2:c.*645C>T	XP_016862950.1:n.*645C>T
XR_001740360.2:n.2231C>T
NM_052859.4:c.*645C>T MANE Select	NP_443091.1:n.*645C>T