Canonical Allele Identifier: CA399001316
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265303A>G , CM000679.2:g.31265303A>G GRCh38
NC_000017.10:g.29592321A>G , CM000679.1:g.29592321A>G GRCh37
NC_000017.9:g.26616447A>G NCBI36
NG_009018.1:g.175327A>G , LRG_214:g.175327A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.601A>G ENSP00000492721.2:n.601A>G
ENST00000696138.1:c.4781A>G ENSP00000512431.1:p.Lys1594Arg
ENST00000696140.1:n.905A>G
ENST00000696141.1:c.790A>G
ENST00000687863.1:n.1444A>G
ENST00000691014.1:c.4829A>G ENSP00000510595.1:p.Lys1610Arg
ENST00000358273.9:c.4799A>G MANE Select ENSP00000351015.4:p.Lys1600Arg
ENST00000356175.7:c.4736A>G ENSP00000348498.3:p.Lys1579Arg
ENST00000358273.8:c.4799A>G ENSP00000351015.4:p.Lys1600Arg
ENST00000456735.6:c.3734A>G ENSP00000389907.2:p.Lys1245Arg
ENST00000493220.5:n.3272A>G
ENST00000579081.5:c.4838A>G ENSP00000462408.1:p.Lys1613Arg
NM_000267.3:c.4736A>G , LRG_214t1:c.4736A>G NP_000258.1:p.Lys1579Arg
NM_001042492.2:c.4799A>G , LRG_214t2:c.4799A>G NP_001035957.1:p.Lys1600Arg
XM_005257983.1:c.4799A>G XP_005258040.1:p.Lys1600Arg
XM_005257984.1:c.4736A>G XP_005258041.1:p.Lys1579Arg
XM_006721922.1:c.4829A>G XP_006721985.1:p.Lys1610Arg
XM_006721923.2:c.4790A>G XP_006721986.1:p.Lys1597Arg
XM_006721924.1:c.4829A>G XP_006721987.1:p.Lys1610Arg
XM_006721925.1:c.4766A>G XP_006721988.1:p.Lys1589Arg
XM_006721926.2:c.4829A>G XP_006721989.1:p.Lys1610Arg
XM_006721927.1:c.4829A>G XP_006721990.1:p.Lys1610Arg
XM_006721928.2:c.4829A>G XP_006721991.1:p.Lys1610Arg
XM_011524852.1:c.4826A>G XP_011523154.1:p.Lys1609Arg
XM_011524853.1:c.4790A>G XP_011523155.1:p.Lys1597Arg
XM_011524854.1:c.4790A>G XP_011523156.1:p.Lys1597Arg
XM_011524855.1:c.4790A>G XP_011523157.1:p.Lys1597Arg
XM_011524856.1:c.4790A>G XP_011523158.1:p.Lys1597Arg
XM_011524857.1:c.4829A>G XP_011523159.1:p.Lys1610Arg
NM_001042492.3:c.4799A>G MANE Select NP_001035957.1:p.Lys1600Arg