Canonical Allele Identifier: CA10583503
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237564
dbSNP Id: rs878853894

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31259072A>G , CM000679.2:g.31259072A>G GRCh38
NC_000017.10:g.29586090A>G , CM000679.1:g.29586090A>G GRCh37
NC_000017.9:g.26610216A>G NCBI36
NG_009018.1:g.169096A>G , LRG_214:g.169096A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.161A>G ENSP00000492721.2:p.Glu54Gly
ENST00000696138.1:c.4355A>G ENSP00000512431.1:p.Glu1452Gly
ENST00000696140.1:n.479A>G
ENST00000696141.1:c.364A>G
ENST00000687863.1:n.1018A>G
ENST00000691014.1:c.4403A>G ENSP00000510595.1:p.Glu1468Gly
ENST00000691649.1:n.345A>G
ENST00000358273.9:c.4373A>G MANE Select ENSP00000351015.4:p.Glu1458Gly
ENST00000356175.7:c.4310A>G ENSP00000348498.3:p.Glu1437Gly
ENST00000358273.8:c.4373A>G ENSP00000351015.4:p.Glu1458Gly
ENST00000456735.6:c.3308A>G ENSP00000389907.2:p.Glu1103Gly
ENST00000466819.5:c.889A>G
ENST00000479614.1:c.826A>G
ENST00000493220.5:n.2846A>G
ENST00000579081.5:c.4412A>G ENSP00000462408.1:p.Glu1471Gly
NM_000267.3:c.4310A>G , LRG_214t1:c.4310A>G NP_000258.1:p.Glu1437Gly
NM_001042492.2:c.4373A>G , LRG_214t2:c.4373A>G NP_001035957.1:p.Glu1458Gly
XM_005257983.1:c.4373A>G XP_005258040.1:p.Glu1458Gly
XM_005257984.1:c.4310A>G XP_005258041.1:p.Glu1437Gly
XM_006721922.1:c.4403A>G XP_006721985.1:p.Glu1468Gly
XM_006721923.2:c.4364A>G XP_006721986.1:p.Glu1455Gly
XM_006721924.1:c.4403A>G XP_006721987.1:p.Glu1468Gly
XM_006721925.1:c.4340A>G XP_006721988.1:p.Glu1447Gly
XM_006721926.2:c.4403A>G XP_006721989.1:p.Glu1468Gly
XM_006721927.1:c.4403A>G XP_006721990.1:p.Glu1468Gly
XM_006721928.2:c.4403A>G XP_006721991.1:p.Glu1468Gly
XM_011524852.1:c.4400A>G XP_011523154.1:p.Glu1467Gly
XM_011524853.1:c.4364A>G XP_011523155.1:p.Glu1455Gly
XM_011524854.1:c.4364A>G XP_011523156.1:p.Glu1455Gly
XM_011524855.1:c.4364A>G XP_011523157.1:p.Glu1455Gly
XM_011524856.1:c.4364A>G XP_011523158.1:p.Glu1455Gly
XM_011524857.1:c.4403A>G XP_011523159.1:p.Glu1468Gly
NM_001042492.3:c.4373A>G MANE Select NP_001035957.1:p.Glu1458Gly