Canonical Allele Identifier: CA399015580
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1484287
dbSNP Id: rs1259241665

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343045C>G , CM000679.2:g.31343045C>G GRCh38
NC_000017.10:g.29670063C>G , CM000679.1:g.29670063C>G GRCh37
NC_000017.9:g.26694189C>G NCBI36
NG_009018.1:g.253069C>G , LRG_214:g.253069C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7081C>G ENSP00000512431.1:p.Leu2361Val
ENST00000684826.1:c.1663C>G ENSP00000509994.1:p.Leu555Val
ENST00000687027.1:c.1255C>G ENSP00000508715.1:p.Leu419Val
ENST00000687863.1:n.3744C>G
ENST00000689464.1:c.38C>G
ENST00000691014.1:c.7129C>G ENSP00000510595.1:p.Leu2377Val
ENST00000693617.1:c.1663C>G ENSP00000510031.1:p.Leu555Val
ENST00000358273.9:c.7099C>G MANE Select ENSP00000351015.4:p.Leu2367Val
ENST00000356175.7:c.7036C>G ENSP00000348498.3:p.Leu2346Val
ENST00000358273.8:c.7099C>G ENSP00000351015.4:p.Leu2367Val
ENST00000456735.6:c.6034C>G ENSP00000389907.2:p.Leu2012Val
ENST00000471572.6:c.482C>G
ENST00000579081.5:c.7235C>G ENSP00000462408.1:n.7235C>G
ENST00000581790.5:c.242C>G
ENST00000582892.1:n.341C>G
ENST00000584328.1:n.513C>G
NM_000267.3:c.7036C>G , LRG_214t1:c.7036C>G NP_000258.1:p.Leu2346Val
NM_001042492.2:c.7099C>G , LRG_214t2:c.7099C>G NP_001035957.1:p.Leu2367Val
XM_005257983.1:c.7099C>G XP_005258040.1:p.Leu2367Val
XM_005257984.1:c.7036C>G XP_005258041.1:p.Leu2346Val
XM_006721922.1:c.7129C>G XP_006721985.1:p.Leu2377Val
XM_006721923.2:c.7090C>G XP_006721986.1:p.Leu2364Val
XM_006721924.1:c.7129C>G XP_006721987.1:p.Leu2377Val
XM_006721925.1:c.7066C>G XP_006721988.1:p.Leu2356Val
XM_006721926.2:c.7129C>G XP_006721989.1:p.Leu2377Val
XM_006721927.1:c.7129C>G XP_006721990.1:p.Leu2377Val
XM_011524852.1:c.7126C>G XP_011523154.1:p.Leu2376Val
XM_011524853.1:c.7090C>G XP_011523155.1:p.Leu2364Val
XM_011524854.1:c.7090C>G XP_011523156.1:p.Leu2364Val
XM_011524855.1:c.7090C>G XP_011523157.1:p.Leu2364Val
XM_011524856.1:c.7090C>G XP_011523158.1:p.Leu2364Val
XM_011524857.1:c.7129C>G XP_011523159.1:p.Leu2377Val
NM_001042492.3:c.7099C>G MANE Select NP_001035957.1:p.Leu2367Val