Canonical Allele Identifier: CA399001202
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265253A>C , CM000679.2:g.31265253A>C GRCh38
NC_000017.10:g.29592271A>C , CM000679.1:g.29592271A>C GRCh37
NC_000017.9:g.26616397A>C NCBI36
NG_009018.1:g.175277A>C , LRG_214:g.175277A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.551A>C ENSP00000492721.2:n.551A>C
ENST00000696138.1:c.4731A>C ENSP00000512431.1:p.Glu1577Asp
ENST00000696140.1:n.855A>C
ENST00000696141.1:c.740A>C
ENST00000687863.1:n.1394A>C
ENST00000691014.1:c.4779A>C ENSP00000510595.1:p.Glu1593Asp
ENST00000358273.9:c.4749A>C MANE Select ENSP00000351015.4:p.Glu1583Asp
ENST00000356175.7:c.4686A>C ENSP00000348498.3:p.Glu1562Asp
ENST00000358273.8:c.4749A>C ENSP00000351015.4:p.Glu1583Asp
ENST00000456735.6:c.3684A>C ENSP00000389907.2:p.Glu1228Asp
ENST00000493220.5:n.3222A>C
ENST00000579081.5:c.4788A>C ENSP00000462408.1:p.Glu1596Asp
NM_000267.3:c.4686A>C , LRG_214t1:c.4686A>C NP_000258.1:p.Glu1562Asp
NM_001042492.2:c.4749A>C , LRG_214t2:c.4749A>C NP_001035957.1:p.Glu1583Asp
XM_005257983.1:c.4749A>C XP_005258040.1:p.Glu1583Asp
XM_005257984.1:c.4686A>C XP_005258041.1:p.Glu1562Asp
XM_006721922.1:c.4779A>C XP_006721985.1:p.Glu1593Asp
XM_006721923.2:c.4740A>C XP_006721986.1:p.Glu1580Asp
XM_006721924.1:c.4779A>C XP_006721987.1:p.Glu1593Asp
XM_006721925.1:c.4716A>C XP_006721988.1:p.Glu1572Asp
XM_006721926.2:c.4779A>C XP_006721989.1:p.Glu1593Asp
XM_006721927.1:c.4779A>C XP_006721990.1:p.Glu1593Asp
XM_006721928.2:c.4779A>C XP_006721991.1:p.Glu1593Asp
XM_011524852.1:c.4776A>C XP_011523154.1:p.Glu1592Asp
XM_011524853.1:c.4740A>C XP_011523155.1:p.Glu1580Asp
XM_011524854.1:c.4740A>C XP_011523156.1:p.Glu1580Asp
XM_011524855.1:c.4740A>C XP_011523157.1:p.Glu1580Asp
XM_011524856.1:c.4740A>C XP_011523158.1:p.Glu1580Asp
XM_011524857.1:c.4779A>C XP_011523159.1:p.Glu1593Asp
NM_001042492.3:c.4749A>C MANE Select NP_001035957.1:p.Glu1583Asp