Canonical Allele Identifier: CA399014374
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338765C>A , CM000679.2:g.31338765C>A GRCh38
NC_000017.10:g.29665783C>A , CM000679.1:g.29665783C>A GRCh37
NC_000017.9:g.26689909C>A NCBI36
NG_009018.1:g.248789C>A , LRG_214:g.248789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6863C>A ENSP00000512431.1:p.Thr2288Lys
ENST00000684826.1:c.1445C>A ENSP00000509994.1:p.Thr482Lys
ENST00000684998.1:n.2703C>A
ENST00000687027.1:c.1037C>A ENSP00000508715.1:p.Thr346Lys
ENST00000687863.1:n.3526C>A
ENST00000691014.1:c.6911C>A ENSP00000510595.1:p.Thr2304Lys
ENST00000693617.1:c.1445C>A ENSP00000510031.1:p.Thr482Lys
ENST00000358273.9:c.6881C>A MANE Select ENSP00000351015.4:p.Thr2294Lys
ENST00000356175.7:c.6818C>A ENSP00000348498.3:p.Thr2273Lys
ENST00000358273.8:c.6881C>A ENSP00000351015.4:p.Thr2294Lys
ENST00000456735.6:c.5816C>A ENSP00000389907.2:p.Thr1939Lys
ENST00000471572.6:c.264C>A
ENST00000579081.5:c.7017C>A ENSP00000462408.1:n.7017C>A
ENST00000581790.5:c.64+885C>A
ENST00000584328.1:n.295C>A
NM_000267.3:c.6818C>A , LRG_214t1:c.6818C>A NP_000258.1:p.Thr2273Lys
NM_001042492.2:c.6881C>A , LRG_214t2:c.6881C>A NP_001035957.1:p.Thr2294Lys
XM_005257983.1:c.6881C>A XP_005258040.1:p.Thr2294Lys
XM_005257984.1:c.6818C>A XP_005258041.1:p.Thr2273Lys
XM_006721922.1:c.6911C>A XP_006721985.1:p.Thr2304Lys
XM_006721923.2:c.6872C>A XP_006721986.1:p.Thr2291Lys
XM_006721924.1:c.6911C>A XP_006721987.1:p.Thr2304Lys
XM_006721925.1:c.6848C>A XP_006721988.1:p.Thr2283Lys
XM_006721926.2:c.6911C>A XP_006721989.1:p.Thr2304Lys
XM_006721927.1:c.6911C>A XP_006721990.1:p.Thr2304Lys
XM_011524852.1:c.6908C>A XP_011523154.1:p.Thr2303Lys
XM_011524853.1:c.6872C>A XP_011523155.1:p.Thr2291Lys
XM_011524854.1:c.6872C>A XP_011523156.1:p.Thr2291Lys
XM_011524855.1:c.6872C>A XP_011523157.1:p.Thr2291Lys
XM_011524856.1:c.6872C>A XP_011523158.1:p.Thr2291Lys
XM_011524857.1:c.6911C>A XP_011523159.1:p.Thr2304Lys
NM_001042492.3:c.6881C>A MANE Select NP_001035957.1:p.Thr2294Lys