Canonical Allele Identifier: CA353222669

Gene: RFT1

Linked Data

• ClinVar Variation Id: 2491066
• ClinVar RCV Id: RCV003211254
• gnomAD v4: 3-53123796-G-C
• MyVariant Identifiers: chr3:g.53157812G>C (hg19) ; chr3:g.53123796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123796G>C , CM000665.2:g.53123796G>C	GRCh38
NC_000003.11:g.53157812G>C , CM000665.1:g.53157812G>C	GRCh37
NC_000003.10:g.53132852G>C	NCBI36
NG_009203.1:g.11659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.194C>G MANE Select	ENSP00000296292.3:p.Ala65Gly
ENST00000296292.7:c.194C>G	ENSP00000296292.3:p.Ala65Gly
ENST00000394738.7:c.150-1233C>G	ENSP00000378223.3:n.150-1233C>G
ENST00000467048.1:c.194C>G	ENSP00000420325.1:p.Ala65Gly
NM_052859.3:c.194C>G	NP_443091.1:p.Ala65Gly
XM_005265537.3:c.194C>G	XP_005265594.1:p.Ala65Gly
XM_006713384.2:c.194C>G	XP_006713447.1:p.Ala65Gly
XM_011534214.1:c.194C>G	XP_011532516.1:p.Ala65Gly
XM_011534215.1:c.194C>G	XP_011532517.1:p.Ala65Gly
XR_940507.1:n.253C>G
XM_005265537.4:c.194C>G	XP_005265594.1:p.Ala65Gly
XM_006713384.3:c.194C>G	XP_006713447.1:p.Ala65Gly
XM_011534214.2:c.194C>G	XP_011532516.1:p.Ala65Gly
XM_011534215.3:c.194C>G	XP_011532517.1:p.Ala65Gly
XM_011534216.3:c.-647C>G	XP_011532518.1:n.-647C>G
XM_017007460.1:c.194C>G	XP_016862949.1:p.Ala65Gly
XM_017007461.2:c.-647C>G	XP_016862950.1:n.-647C>G
XR_001740360.2:n.260C>G
NM_052859.4:c.194C>G MANE Select	NP_443091.1:p.Ala65Gly