Canonical Allele Identifier: CA353222740

Gene: RFT1

Linked Data

• dbSNP Id: rs1245207439
• gnomAD v2: 3-53157830-A-C
• gnomAD v4: 3-53123814-A-C
• MyVariant Identifiers: chr3:g.53157830A>C (hg19) ; chr3:g.53123814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123814A>C , CM000665.2:g.53123814A>C	GRCh38
NC_000003.11:g.53157830A>C , CM000665.1:g.53157830A>C	GRCh37
NC_000003.10:g.53132870A>C	NCBI36
NG_009203.1:g.11641T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.176T>G MANE Select	ENSP00000296292.3:p.Leu59Arg
ENST00000296292.7:c.176T>G	ENSP00000296292.3:p.Leu59Arg
ENST00000394738.7:c.150-1251T>G	ENSP00000378223.3:n.150-1251T>G
ENST00000467048.1:c.176T>G	ENSP00000420325.1:p.Leu59Arg
NM_052859.3:c.176T>G	NP_443091.1:p.Leu59Arg
XM_005265537.3:c.176T>G	XP_005265594.1:p.Leu59Arg
XM_006713384.2:c.176T>G	XP_006713447.1:p.Leu59Arg
XM_011534214.1:c.176T>G	XP_011532516.1:p.Leu59Arg
XM_011534215.1:c.176T>G	XP_011532517.1:p.Leu59Arg
XR_940507.1:n.235T>G
XM_005265537.4:c.176T>G	XP_005265594.1:p.Leu59Arg
XM_006713384.3:c.176T>G	XP_006713447.1:p.Leu59Arg
XM_011534214.2:c.176T>G	XP_011532516.1:p.Leu59Arg
XM_011534215.3:c.176T>G	XP_011532517.1:p.Leu59Arg
XM_011534216.3:c.-665T>G	XP_011532518.1:n.-665T>G
XM_017007460.1:c.176T>G	XP_016862949.1:p.Leu59Arg
XM_017007461.2:c.-665T>G	XP_016862950.1:n.-665T>G
XR_001740360.2:n.242T>G
NM_052859.4:c.176T>G MANE Select	NP_443091.1:p.Leu59Arg