Canonical Allele Identifier: CA1365175881

Gene: RFT1

Linked Data

• dbSNP Id: rs1702030428
• gnomAD v4: 3-53123706-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123706T>C , CM000665.2:g.53123706T>C	GRCh38
NC_000003.11:g.53157722T>C , CM000665.1:g.53157722T>C	GRCh37
NC_000003.10:g.53132762T>C	NCBI36
NG_009203.1:g.11749A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.266+18A>G MANE Select	ENSP00000296292.3:n.266+18A>G
ENST00000296292.7:c.266+18A>G	ENSP00000296292.3:n.266+18A>G
ENST00000394738.7:c.150-1143A>G	ENSP00000378223.3:n.150-1143A>G
ENST00000467048.1:c.266+18A>G	ENSP00000420325.1:n.266+18A>G
NM_052859.3:c.266+18A>G	NP_443091.1:n.266+18A>G
XM_005265537.3:c.266+18A>G	XP_005265594.1:n.266+18A>G
XM_006713384.2:c.266+18A>G	XP_006713447.1:n.266+18A>G
XM_011534214.1:c.266+18A>G	XP_011532516.1:n.266+18A>G
XM_011534215.1:c.266+18A>G	XP_011532517.1:n.266+18A>G
XR_940507.1:n.325+18A>G
XM_005265537.4:c.266+18A>G	XP_005265594.1:n.266+18A>G
XM_006713384.3:c.266+18A>G	XP_006713447.1:n.266+18A>G
XM_011534214.2:c.266+18A>G	XP_011532516.1:n.266+18A>G
XM_011534215.3:c.266+18A>G	XP_011532517.1:n.266+18A>G
XM_011534216.3:c.-575+18A>G	XP_011532518.1:n.-575+18A>G
XM_017007460.1:c.266+18A>G	XP_016862949.1:n.266+18A>G
XM_017007461.2:c.-575+18A>G	XP_016862950.1:n.-575+18A>G
XR_001740360.2:n.332+18A>G
NM_052859.4:c.266+18A>G MANE Select	NP_443091.1:n.266+18A>G