Canonical Allele Identifier: CA2451510

Gene: RFT1

Linked Data

• ClinVar Variation Id: 372948
• ClinVar RCV Id: RCV000414688 ; RCV002524642 ; RCV003317204
• dbSNP Id: rs753527390
• ExAC: 3:53157806 C / T
• gnomAD v2: 3-53157806-C-T
• gnomAD v3: 3-53123790-C-T
• gnomAD v4: 3-53123790-C-T
• COSMIC: COSM4721188
• MyVariant Identifiers: chr3:g.53157806C>T (hg19) ; chr3:g.53123790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123790C>T , CM000665.2:g.53123790C>T	GRCh38
NC_000003.11:g.53157806C>T , CM000665.1:g.53157806C>T	GRCh37
NC_000003.10:g.53132846C>T	NCBI36
NG_009203.1:g.11665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.200G>A MANE Select	ENSP00000296292.3:p.Arg67His
ENST00000296292.7:c.200G>A	ENSP00000296292.3:p.Arg67His
ENST00000394738.7:c.150-1227G>A	ENSP00000378223.3:n.150-1227G>A
ENST00000467048.1:c.200G>A	ENSP00000420325.1:p.Arg67His
NM_052859.3:c.200G>A	NP_443091.1:p.Arg67His
XM_005265537.3:c.200G>A	XP_005265594.1:p.Arg67His
XM_006713384.2:c.200G>A	XP_006713447.1:p.Arg67His
XM_011534214.1:c.200G>A	XP_011532516.1:p.Arg67His
XM_011534215.1:c.200G>A	XP_011532517.1:p.Arg67His
XR_940507.1:n.259G>A
XM_005265537.4:c.200G>A	XP_005265594.1:p.Arg67His
XM_006713384.3:c.200G>A	XP_006713447.1:p.Arg67His
XM_011534214.2:c.200G>A	XP_011532516.1:p.Arg67His
XM_011534215.3:c.200G>A	XP_011532517.1:p.Arg67His
XM_011534216.3:c.-641G>A	XP_011532518.1:n.-641G>A
XM_017007460.1:c.200G>A	XP_016862949.1:p.Arg67His
XM_017007461.2:c.-641G>A	XP_016862950.1:n.-641G>A
XR_001740360.2:n.266G>A
NM_052859.4:c.200G>A MANE Select	NP_443091.1:p.Arg67His