Canonical Allele Identifier: CA353222599

Gene: RFT1

Linked Data

• MyVariant Identifiers: chr3:g.53157778C>G (hg19) ; chr3:g.53123762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123762C>G , CM000665.2:g.53123762C>G	GRCh38
NC_000003.11:g.53157778C>G , CM000665.1:g.53157778C>G	GRCh37
NC_000003.10:g.53132818C>G	NCBI36
NG_009203.1:g.11693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.228G>C MANE Select	ENSP00000296292.3:p.Gln76His
ENST00000296292.7:c.228G>C	ENSP00000296292.3:p.Gln76His
ENST00000394738.7:c.150-1199G>C	ENSP00000378223.3:n.150-1199G>C
ENST00000467048.1:c.228G>C	ENSP00000420325.1:p.Gln76His
NM_052859.3:c.228G>C	NP_443091.1:p.Gln76His
XM_005265537.3:c.228G>C	XP_005265594.1:p.Gln76His
XM_006713384.2:c.228G>C	XP_006713447.1:p.Gln76His
XM_011534214.1:c.228G>C	XP_011532516.1:p.Gln76His
XM_011534215.1:c.228G>C	XP_011532517.1:p.Gln76His
XR_940507.1:n.287G>C
XM_005265537.4:c.228G>C	XP_005265594.1:p.Gln76His
XM_006713384.3:c.228G>C	XP_006713447.1:p.Gln76His
XM_011534214.2:c.228G>C	XP_011532516.1:p.Gln76His
XM_011534215.3:c.228G>C	XP_011532517.1:p.Gln76His
XM_011534216.3:c.-613G>C	XP_011532518.1:n.-613G>C
XM_017007460.1:c.228G>C	XP_016862949.1:p.Gln76His
XM_017007461.2:c.-613G>C	XP_016862950.1:n.-613G>C
XR_001740360.2:n.294G>C
NM_052859.4:c.228G>C MANE Select	NP_443091.1:p.Gln76His