Canonical Allele Identifier: CA353222512

Gene: RFT1

Linked Data

• dbSNP Id: rs371764423
• gnomAD v3: 3-53123723-C-G
• gnomAD v4: 3-53123723-C-G
• MyVariant Identifiers: chr3:g.53157739C>G (hg19) ; chr3:g.53123723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123723C>G , CM000665.2:g.53123723C>G	GRCh38
NC_000003.11:g.53157739C>G , CM000665.1:g.53157739C>G	GRCh37
NC_000003.10:g.53132779C>G	NCBI36
NG_009203.1:g.11732G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.266+1G>C MANE Select	ENSP00000296292.3:n.266+1G>C
ENST00000296292.7:c.266+1G>C	ENSP00000296292.3:n.266+1G>C
ENST00000394738.7:c.150-1160G>C	ENSP00000378223.3:n.150-1160G>C
ENST00000467048.1:c.266+1G>C	ENSP00000420325.1:n.266+1G>C
NM_052859.3:c.266+1G>C	NP_443091.1:n.266+1G>C
XM_005265537.3:c.266+1G>C	XP_005265594.1:n.266+1G>C
XM_006713384.2:c.266+1G>C	XP_006713447.1:n.266+1G>C
XM_011534214.1:c.266+1G>C	XP_011532516.1:n.266+1G>C
XM_011534215.1:c.266+1G>C	XP_011532517.1:n.266+1G>C
XR_940507.1:n.325+1G>C
XM_005265537.4:c.266+1G>C	XP_005265594.1:n.266+1G>C
XM_006713384.3:c.266+1G>C	XP_006713447.1:n.266+1G>C
XM_011534214.2:c.266+1G>C	XP_011532516.1:n.266+1G>C
XM_011534215.3:c.266+1G>C	XP_011532517.1:n.266+1G>C
XM_011534216.3:c.-575+1G>C	XP_011532518.1:n.-575+1G>C
XM_017007460.1:c.266+1G>C	XP_016862949.1:n.266+1G>C
XM_017007461.2:c.-575+1G>C	XP_016862950.1:n.-575+1G>C
XR_001740360.2:n.332+1G>C
NM_052859.4:c.266+1G>C MANE Select	NP_443091.1:n.266+1G>C