Canonical Allele Identifier: CA10616449

Gene: RFT1

Linked Data

• ClinVar Variation Id: 346202
• ClinVar RCV Id: RCV000322986
• dbSNP Id: rs886058729
• gnomAD v2: 3-53164417-A-G
• gnomAD v3: 3-53130401-A-G
• gnomAD v4: 3-53130401-A-G
• MyVariant Identifiers: chr3:g.53164417A>G (hg19) ; chr3:g.53130401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53130401A>G , CM000665.2:g.53130401A>G	GRCh38
NC_000003.11:g.53164417A>G , CM000665.1:g.53164417A>G	GRCh37
NC_000003.10:g.53139457A>G	NCBI36
NG_009203.1:g.5054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.-1T>C MANE Select	ENSP00000296292.3:n.-1T>C
ENST00000296292.7:c.-1T>C	ENSP00000296292.3:n.-1T>C
ENST00000394738.7:c.-1T>C	ENSP00000378223.3:n.-1T>C
ENST00000467048.1:c.-1T>C	ENSP00000420325.1:n.-1T>C
NM_052859.3:c.-1T>C	NP_443091.1:n.-1T>C
XM_005265537.3:c.-1T>C	XP_005265594.1:n.-1T>C
XM_006713384.2:c.-1T>C	XP_006713447.1:n.-1T>C
XM_011534214.1:c.-1T>C	XP_011532516.1:n.-1T>C
XM_011534215.1:c.-1T>C	XP_011532517.1:n.-1T>C
XR_940507.1:n.59T>C
XM_005265537.4:c.-1T>C	XP_005265594.1:n.-1T>C
XM_006713384.3:c.-1T>C	XP_006713447.1:n.-1T>C
XM_011534214.2:c.-1T>C	XP_011532516.1:n.-1T>C
XM_011534215.3:c.-1T>C	XP_011532517.1:n.-1T>C
XM_011534216.3:c.-755T>C	XP_011532518.1:n.-755T>C
XM_017007460.1:c.-1T>C	XP_016862949.1:n.-1T>C
XM_017007461.2:c.-841T>C	XP_016862950.1:n.-841T>C
XR_001740360.2:n.66T>C
NM_052859.4:c.-1T>C MANE Select	NP_443091.1:n.-1T>C