Canonical Allele Identifier: CA398997704
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258383G>T , CM000679.2:g.31258383G>T GRCh38
NC_000017.10:g.29585401G>T , CM000679.1:g.29585401G>T GRCh37
NC_000017.9:g.26609527G>T NCBI36
NG_009018.1:g.168407G>T , LRG_214:g.168407G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1G>T ENSP00000492721.2:p.Val1Leu
ENST00000696138.1:c.4195G>T ENSP00000512431.1:p.Val1399Leu
ENST00000696140.1:n.319G>T
ENST00000696141.1:c.204G>T
ENST00000687863.1:n.858G>T
ENST00000691014.1:c.4243G>T ENSP00000510595.1:p.Val1415Leu
ENST00000691649.1:n.185G>T
ENST00000358273.9:c.4213G>T MANE Select ENSP00000351015.4:p.Val1405Leu
ENST00000356175.7:c.4150G>T ENSP00000348498.3:p.Val1384Leu
ENST00000358273.8:c.4213G>T ENSP00000351015.4:p.Val1405Leu
ENST00000456735.6:c.3148G>T ENSP00000389907.2:p.Val1050Leu
ENST00000466819.5:c.729G>T
ENST00000479614.1:c.666G>T
ENST00000493220.5:n.2686G>T
ENST00000579081.5:c.4252G>T ENSP00000462408.1:p.Val1418Leu
NM_000267.3:c.4150G>T , LRG_214t1:c.4150G>T NP_000258.1:p.Val1384Leu
NM_001042492.2:c.4213G>T , LRG_214t2:c.4213G>T NP_001035957.1:p.Val1405Leu
XM_005257983.1:c.4213G>T XP_005258040.1:p.Val1405Leu
XM_005257984.1:c.4150G>T XP_005258041.1:p.Val1384Leu
XM_006721922.1:c.4243G>T XP_006721985.1:p.Val1415Leu
XM_006721923.2:c.4204G>T XP_006721986.1:p.Val1402Leu
XM_006721924.1:c.4243G>T XP_006721987.1:p.Val1415Leu
XM_006721925.1:c.4180G>T XP_006721988.1:p.Val1394Leu
XM_006721926.2:c.4243G>T XP_006721989.1:p.Val1415Leu
XM_006721927.1:c.4243G>T XP_006721990.1:p.Val1415Leu
XM_006721928.2:c.4243G>T XP_006721991.1:p.Val1415Leu
XM_011524852.1:c.4240G>T XP_011523154.1:p.Val1414Leu
XM_011524853.1:c.4204G>T XP_011523155.1:p.Val1402Leu
XM_011524854.1:c.4204G>T XP_011523156.1:p.Val1402Leu
XM_011524855.1:c.4204G>T XP_011523157.1:p.Val1402Leu
XM_011524856.1:c.4204G>T XP_011523158.1:p.Val1402Leu
XM_011524857.1:c.4243G>T XP_011523159.1:p.Val1415Leu
NM_001042492.3:c.4213G>T MANE Select NP_001035957.1:p.Val1405Leu