Canonical Allele Identifier: CA353222660

Gene: RFT1

Linked Data

• gnomAD v4: 3-53123791-G-T
• MyVariant Identifiers: chr3:g.53157807G>T (hg19) ; chr3:g.53123791G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123791G>T , CM000665.2:g.53123791G>T	GRCh38
NC_000003.11:g.53157807G>T , CM000665.1:g.53157807G>T	GRCh37
NC_000003.10:g.53132847G>T	NCBI36
NG_009203.1:g.11664C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.199C>A MANE Select	ENSP00000296292.3:p.Arg67Ser
ENST00000296292.7:c.199C>A	ENSP00000296292.3:p.Arg67Ser
ENST00000394738.7:c.150-1228C>A	ENSP00000378223.3:n.150-1228C>A
ENST00000467048.1:c.199C>A	ENSP00000420325.1:p.Arg67Ser
NM_052859.3:c.199C>A	NP_443091.1:p.Arg67Ser
XM_005265537.3:c.199C>A	XP_005265594.1:p.Arg67Ser
XM_006713384.2:c.199C>A	XP_006713447.1:p.Arg67Ser
XM_011534214.1:c.199C>A	XP_011532516.1:p.Arg67Ser
XM_011534215.1:c.199C>A	XP_011532517.1:p.Arg67Ser
XR_940507.1:n.258C>A
XM_005265537.4:c.199C>A	XP_005265594.1:p.Arg67Ser
XM_006713384.3:c.199C>A	XP_006713447.1:p.Arg67Ser
XM_011534214.2:c.199C>A	XP_011532516.1:p.Arg67Ser
XM_011534215.3:c.199C>A	XP_011532517.1:p.Arg67Ser
XM_011534216.3:c.-642C>A	XP_011532518.1:n.-642C>A
XM_017007460.1:c.199C>A	XP_016862949.1:p.Arg67Ser
XM_017007461.2:c.-642C>A	XP_016862950.1:n.-642C>A
XR_001740360.2:n.265C>A
NM_052859.4:c.199C>A MANE Select	NP_443091.1:p.Arg67Ser