Canonical Allele Identifier: CA74814701

Gene: RFT1

Linked Data

• dbSNP Id: rs572442602
• gnomAD v2: 3-53158212-C-CGG
• gnomAD v3: 3-53124196-C-CGG
• gnomAD v4: 3-53124196-C-CGG
• MyVariant Identifiers: chr3:g.53158212_53158213insGG (hg19) ; chr3:g.53124196_53124197insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53124197_53124198insGG , CM000665.2:g.53124197_53124198insGG	GRCh38
NC_000003.11:g.53158213_53158214insGG , CM000665.1:g.53158213_53158214insGG	GRCh37
NC_000003.10:g.53133253_53133254insGG	NCBI36
NG_009203.1:g.11258_11259insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.150-357_150-356insCC MANE Select	ENSP00000296292.3:n.150-357_150-356insCC
ENST00000296292.7:c.150-357_150-356insCC	ENSP00000296292.3:n.150-357_150-356insCC
ENST00000394738.7:c.150-1634_150-1633insCC	ENSP00000378223.3:n.150-1634_150-1633insCC
ENST00000467048.1:c.150-357_150-356insCC	ENSP00000420325.1:n.150-357_150-356insCC
NM_052859.3:c.150-357_150-356insCC	NP_443091.1:n.150-357_150-356insCC
XM_005265537.3:c.150-357_150-356insCC	XP_005265594.1:n.150-357_150-356insCC
XM_006713384.2:c.150-357_150-356insCC	XP_006713447.1:n.150-357_150-356insCC
XM_011534214.1:c.150-357_150-356insCC	XP_011532516.1:n.150-357_150-356insCC
XM_011534215.1:c.150-357_150-356insCC	XP_011532517.1:n.150-357_150-356insCC
XR_940507.1:n.209-357_209-356insCC
XM_005265537.4:c.150-357_150-356insCC	XP_005265594.1:n.150-357_150-356insCC
XM_006713384.3:c.150-357_150-356insCC	XP_006713447.1:n.150-357_150-356insCC
XM_011534214.2:c.150-357_150-356insCC	XP_011532516.1:n.150-357_150-356insCC
XM_011534215.3:c.150-357_150-356insCC	XP_011532517.1:n.150-357_150-356insCC
XM_011534216.3:c.-691-357_-691-356insCC	XP_011532518.1:n.-691-357_-691-356insCC
XM_017007460.1:c.150-357_150-356insCC	XP_016862949.1:n.150-357_150-356insCC
XM_017007461.2:c.-691-357_-691-356insCC	XP_016862950.1:n.-691-357_-691-356insCC
XR_001740360.2:n.216-357_216-356insCC
NM_052859.4:c.150-357_150-356insCC MANE Select	NP_443091.1:n.150-357_150-356insCC