Canonical Allele Identifier: CA2451189

Gene: RFT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53092556C>T , CM000665.2:g.53092556C>T	GRCh38
NC_000003.11:g.53126572C>T , CM000665.1:g.53126572C>T	GRCh37
NC_000003.10:g.53101612C>T	NCBI36
NG_009203.1:g.42899G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052859.4:c.1271G>A MANE Select	NP_443091.1:p.Arg424His
ENST00000296292.8:c.1271G>A MANE Select	ENSP00000296292.3:p.Arg424His
NM_052859.3:c.1271G>A	NP_443091.1:p.Arg424His
ENST00000296292.7:c.1271G>A	ENSP00000296292.3:p.Arg424His
ENST00000394738.7:c.1154G>A	ENSP00000378223.3:p.Arg385His
ENST00000607203.1:c.74-6704G>A
ENST00000607283.5:c.136G>A
ENST00000607495.5:c.73+6825G>A
XM_006713384.2:c.1209-6704G>A	XP_006713447.1:n.1209-6704G>A
XM_006713384.3:c.1209-6704G>A	XP_006713447.1:n.1209-6704G>A
XM_011534214.1:c.1208+6825G>A	XP_011532516.1:n.1208+6825G>A
XM_011534214.2:c.1208+6825G>A	XP_011532516.1:n.1208+6825G>A
XM_011534215.1:c.1208+6825G>A	XP_011532517.1:n.1208+6825G>A
XM_011534215.3:c.1208+6825G>A	XP_011532517.1:n.1208+6825G>A
XM_011534216.1:c.614G>A	XP_011532518.1:p.Arg205His
XM_011534216.3:c.614G>A	XP_011532518.1:p.Arg205His
XM_017007460.1:c.1271G>A	XP_016862949.1:p.Arg424His
XM_017007461.2:c.614G>A	XP_016862950.1:p.Arg205His
XR_001740360.2:n.1231G>A
XR_940507.1:n.1268-6704G>A