Canonical Allele Identifier: CA275919

Gene: RFT1

Linked Data

• ClinVar Variation Id: 207986
• ClinVar RCV Id: RCV000190246 ; RCV001818462
• dbSNP Id: rs763862849
• ExAC: 3:53156392 T / C
• gnomAD v2: 3-53156392-T-C
• gnomAD v3: 3-53122376-T-C
• gnomAD v4: 3-53122376-T-C
• MyVariant Identifiers: chr3:g.53156392T>C (hg19) ; chr3:g.53122376T>C (hg38)
• PubMed: PMID:19701946 ; PMID:19856127

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53122376T>C , CM000665.2:g.53122376T>C	GRCh38
NC_000003.11:g.53156392T>C , CM000665.1:g.53156392T>C	GRCh37
NC_000003.10:g.53131432T>C	NCBI36
NG_009203.1:g.13079A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.454A>G MANE Select	ENSP00000296292.3:p.Lys152Glu
ENST00000296292.7:c.454A>G	ENSP00000296292.3:p.Lys152Glu
ENST00000394738.7:c.337A>G	ENSP00000378223.3:p.Lys113Glu
ENST00000467048.1:c.454A>G	ENSP00000420325.1:p.Lys152Glu
NM_052859.3:c.454A>G	NP_443091.1:p.Lys152Glu
XM_005265537.3:c.454A>G	XP_005265594.1:p.Lys152Glu
XM_006713384.2:c.454A>G	XP_006713447.1:p.Lys152Glu
XM_011534214.1:c.454A>G	XP_011532516.1:p.Lys152Glu
XM_011534215.1:c.454A>G	XP_011532517.1:p.Lys152Glu
XR_940507.1:n.513A>G
XM_005265537.4:c.454A>G	XP_005265594.1:p.Lys152Glu
XM_006713384.3:c.454A>G	XP_006713447.1:p.Lys152Glu
XM_011534214.2:c.454A>G	XP_011532516.1:p.Lys152Glu
XM_011534215.3:c.454A>G	XP_011532517.1:p.Lys152Glu
XM_011534216.3:c.-387A>G	XP_011532518.1:n.-387A>G
XM_017007460.1:c.454A>G	XP_016862949.1:p.Lys152Glu
XM_017007461.2:c.-387A>G	XP_016862950.1:n.-387A>G
XR_001740360.2:n.520A>G
NM_052859.4:c.454A>G MANE Select	NP_443091.1:p.Lys152Glu