Canonical Allele Identifier: CA348764558

Gene: NEB RIF1

Linked Data

• gnomAD v4: 2-151524332-C-G
• MyVariant Identifiers: chr2:g.152380846C>G (hg19) ; chr2:g.151524332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151524332C>G , CM000664.2:g.151524332C>G	GRCh38
NC_000002.11:g.152380846C>G , CM000664.1:g.152380846C>G	GRCh37
NC_000002.10:g.152089092C>G	NCBI36
NG_009382.2:g.215156G>C , LRG_202:g.215156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.1901G>C (NEB)
ENST00000688161.1:n.248G>C (NEB)
ENST00000690043.1:c.5309G>C (NEB)
ENST00000693000.1:n.1483G>C (NEB)
ENST00000693286.1:c.1157G>C (NEB)
ENST00000397345.8:c.22458G>C (NEB) MANE Select	ENSP00000380505.3:p.Lys7486Asn
ENST00000427231.7:c.22458G>C (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Lys7486Asn
ENST00000172853.14:c.17355G>C (NEB)	ENSP00000172853.10:p.Lys5785Asn
ENST00000397345.7:c.22458G>C (NEB)	ENSP00000380505.3:p.Lys7486Asn
ENST00000409198.5:c.17355G>C (NEB)	ENSP00000386259.1:p.Lys5785Asn
ENST00000413693.5:c.6648G>C (NEB)	ENSP00000410961.1:p.Lys2216Asn
ENST00000427231.6:c.22458G>C (NEB)	ENSP00000416578.2:p.Lys7486Asn
ENST00000434685.5:c.326G>C (NEB)
ENST00000603639.5:c.22458G>C (NEB)	ENSP00000473894.1:p.Lys7486Asn
ENST00000604864.5:c.22458G>C (NEB)	ENSP00000474498.1:p.Lys7486Asn
ENST00000618972.4:c.22563G>C (NEB)	ENSP00000484342.1:p.Lys7521Asn
NM_001164507.1:c.22458G>C (NEB)	NP_001157979.1:p.Lys7486Asn
NM_001164508.1:c.22458G>C (NEB)	NP_001157980.1:p.Lys7486Asn
NM_001271208.1:c.22563G>C , LRG_202t1:c.22563G>C (NEB)	NP_001258137.1:p.Lys7521Asn
NM_004543.4:c.17355G>C (NEB)	NP_004534.2:p.Lys5785Asn
XM_005246590.1:c.22458G>C (NEB)	XP_005246647.1:p.Lys7486Asn
XM_005246591.1:c.22458G>C (NEB)	XP_005246648.1:p.Lys7486Asn
XM_005246592.1:c.22458G>C (NEB)	XP_005246649.1:p.Lys7486Asn
XM_005246593.1:c.22458G>C (NEB)	XP_005246650.1:p.Lys7486Asn
XM_005246594.1:c.22458G>C (NEB)	XP_005246651.1:p.Lys7486Asn
XM_005246595.1:c.22458G>C (NEB)	XP_005246652.1:p.Lys7486Asn
XM_005246596.1:c.22458G>C (NEB)	XP_005246653.1:p.Lys7486Asn
XM_005246597.1:c.22458G>C (NEB)	XP_005246654.1:p.Lys7486Asn
XM_005246598.1:c.22458G>C (NEB)	XP_005246655.1:p.Lys7486Asn
XM_005246599.1:c.22458G>C (NEB)	XP_005246656.1:p.Lys7486Asn
XM_005246600.1:c.22458G>C (NEB)	XP_005246657.1:p.Lys7486Asn
XM_005246601.1:c.22458G>C (NEB)	XP_005246658.1:p.Lys7486Asn
XM_005246602.1:c.22458G>C (NEB)	XP_005246659.1:p.Lys7486Asn
XM_005246603.1:c.22458G>C (NEB)	XP_005246660.1:p.Lys7486Asn
XM_005246604.1:c.22458G>C (NEB)	XP_005246661.1:p.Lys7486Asn
XM_005246606.1:c.22458G>C (NEB)	XP_005246663.1:p.Lys7486Asn
XM_005246608.1:c.22458G>C (NEB)	XP_005246665.1:p.Lys7486Asn
XM_005246610.1:c.22458G>C (NEB)	XP_005246667.1:p.Lys7486Asn
XM_005246611.1:c.22458G>C (NEB)	XP_005246668.1:p.Lys7486Asn
XM_005246612.1:c.21729G>C (NEB)	XP_005246669.1:p.Lys7243Asn
XM_005246613.1:c.21729G>C (NEB)	XP_005246670.1:p.Lys7243Asn
XM_005246615.1:c.22458G>C (NEB)	XP_005246672.1:p.Lys7486Asn
XM_005246616.1:c.22458G>C (NEB)	XP_005246673.1:p.Lys7486Asn
XM_005246617.1:c.19542G>C (NEB)	XP_005246674.1:p.Lys6514Asn
XM_006712541.1:c.22458G>C (NEB)	XP_006712604.1:p.Lys7486Asn
XM_006712542.1:c.22458G>C (NEB)	XP_006712605.1:p.Lys7486Asn
XM_011511224.1:c.22458G>C (NEB)	XP_011509526.1:p.Lys7486Asn
XM_011511225.1:c.22458G>C (NEB)	XP_011509527.1:p.Lys7486Asn
XM_011511226.1:c.20271G>C (NEB)	XP_011509528.1:p.Lys6757Asn
XM_011511227.1:c.18084G>C (NEB)	XP_011509529.1:p.Lys6028Asn
XR_922955.1:n.7839-9601C>G (RIF1)
XM_005246590.2:c.22458G>C (NEB)	XP_005246647.1:p.Lys7486Asn
XM_005246591.2:c.22458G>C (NEB)	XP_005246648.1:p.Lys7486Asn
XM_005246592.2:c.22458G>C (NEB)	XP_005246649.1:p.Lys7486Asn
XM_005246593.2:c.22458G>C (NEB)	XP_005246650.1:p.Lys7486Asn
XM_005246594.2:c.22458G>C (NEB)	XP_005246651.1:p.Lys7486Asn
XM_005246596.2:c.22458G>C (NEB)	XP_005246653.1:p.Lys7486Asn
XM_005246597.2:c.22458G>C (NEB)	XP_005246654.1:p.Lys7486Asn
XM_005246598.2:c.22458G>C (NEB)	XP_005246655.1:p.Lys7486Asn
XM_005246599.2:c.22458G>C (NEB)	XP_005246656.1:p.Lys7486Asn
XM_005246601.2:c.22458G>C (NEB)	XP_005246658.1:p.Lys7486Asn
XM_005246602.2:c.22458G>C (NEB)	XP_005246659.1:p.Lys7486Asn
XM_005246603.2:c.22458G>C (NEB)	XP_005246660.1:p.Lys7486Asn
XM_005246604.2:c.22458G>C (NEB)	XP_005246661.1:p.Lys7486Asn
XM_005246606.2:c.22458G>C (NEB)	XP_005246663.1:p.Lys7486Asn
XM_005246608.2:c.22458G>C (NEB)	XP_005246665.1:p.Lys7486Asn
XM_005246610.2:c.22458G>C (NEB)	XP_005246667.1:p.Lys7486Asn
XM_005246611.2:c.22458G>C (NEB)	XP_005246668.1:p.Lys7486Asn
XM_005246612.2:c.21729G>C (NEB)	XP_005246669.1:p.Lys7243Asn
XM_005246613.2:c.21729G>C (NEB)	XP_005246670.1:p.Lys7243Asn
XM_005246615.2:c.22458G>C (NEB)	XP_005246672.1:p.Lys7486Asn
XM_005246617.2:c.19542G>C (NEB)	XP_005246674.1:p.Lys6514Asn
XM_006712541.2:c.22458G>C (NEB)	XP_006712604.1:p.Lys7486Asn
XM_006712542.2:c.22458G>C (NEB)	XP_006712605.1:p.Lys7486Asn
XM_011511225.2:c.22458G>C (NEB)	XP_011509527.1:p.Lys7486Asn
XM_011511226.2:c.20271G>C (NEB)	XP_011509528.1:p.Lys6757Asn
XM_011511227.2:c.18084G>C (NEB)	XP_011509529.1:p.Lys6028Asn
XM_017004177.1:c.22458G>C (NEB)	XP_016859666.1:p.Lys7486Asn
XM_017004178.1:c.22458G>C (NEB)	XP_016859667.1:p.Lys7486Asn
XM_017004179.1:c.22458G>C (NEB)	XP_016859668.1:p.Lys7486Asn
XM_017004180.1:c.22458G>C (NEB)	XP_016859669.1:p.Lys7486Asn
XM_017004181.1:c.22458G>C (NEB)	XP_016859670.1:p.Lys7486Asn
XM_017004182.1:c.22458G>C (NEB)	XP_016859671.1:p.Lys7486Asn
XM_017004183.1:c.22458G>C (NEB)	XP_016859672.1:p.Lys7486Asn
XM_017004184.1:c.22458G>C (NEB)	XP_016859673.1:p.Lys7486Asn
XM_017004185.1:c.22458G>C (NEB)	XP_016859674.1:p.Lys7486Asn
XR_001738817.2:n.8214-9601C>G (RIF1)
NM_001271208.2:c.22563G>C (NEB)	NP_001258137.2:p.Lys7521Asn
NM_004543.5:c.17355G>C (NEB)	NP_004534.3:p.Lys5785Asn
NM_001164507.2:c.22458G>C (NEB) MANE Plus Clinical	NP_001157979.2:p.Lys7486Asn
NM_001164508.2:c.22458G>C (NEB) MANE Select	NP_001157980.2:p.Lys7486Asn