Canonical Allele Identifier: CA399010458
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1379146
ClinVar RCV Id: RCV001883621
dbSNP Id: rs2151544934

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330466T>G , CM000679.2:g.31330466T>G GRCh38
NC_000017.10:g.29657484T>G , CM000679.1:g.29657484T>G GRCh37
NC_000017.9:g.26681610T>G NCBI36
NG_009018.1:g.240490T>G , LRG_214:g.240490T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1968T>G ENSP00000492721.2:n.1968T>G
ENST00000696138.1:c.5762T>G ENSP00000512431.1:p.Leu1921Trp
ENST00000684826.1:c.344T>G ENSP00000509994.1:p.Leu115Trp
ENST00000687027.1:c.-65T>G ENSP00000508715.1:n.-65T>G
ENST00000687863.1:n.2425T>G
ENST00000691014.1:c.5810T>G ENSP00000510595.1:p.Leu1937Trp
ENST00000693617.1:c.344T>G ENSP00000510031.1:p.Leu115Trp
ENST00000358273.9:c.5780T>G MANE Select ENSP00000351015.4:p.Leu1927Trp
ENST00000356175.7:c.5717T>G ENSP00000348498.3:p.Leu1906Trp
ENST00000358273.8:c.5780T>G ENSP00000351015.4:p.Leu1927Trp
ENST00000456735.6:c.4715T>G ENSP00000389907.2:p.Leu1572Trp
ENST00000479536.2:c.138T>G
ENST00000493220.5:n.4253T>G
ENST00000579081.5:c.5916T>G ENSP00000462408.1:n.5916T>G
ENST00000581113.6:n.1097T>G
NM_000267.3:c.5717T>G , LRG_214t1:c.5717T>G NP_000258.1:p.Leu1906Trp
NM_001042492.2:c.5780T>G , LRG_214t2:c.5780T>G NP_001035957.1:p.Leu1927Trp
XM_005257983.1:c.5780T>G XP_005258040.1:p.Leu1927Trp
XM_005257984.1:c.5717T>G XP_005258041.1:p.Leu1906Trp
XM_006721922.1:c.5810T>G XP_006721985.1:p.Leu1937Trp
XM_006721923.2:c.5771T>G XP_006721986.1:p.Leu1924Trp
XM_006721924.1:c.5810T>G XP_006721987.1:p.Leu1937Trp
XM_006721925.1:c.5747T>G XP_006721988.1:p.Leu1916Trp
XM_006721926.2:c.5810T>G XP_006721989.1:p.Leu1937Trp
XM_006721927.1:c.5810T>G XP_006721990.1:p.Leu1937Trp
XM_011524852.1:c.5807T>G XP_011523154.1:p.Leu1936Trp
XM_011524853.1:c.5771T>G XP_011523155.1:p.Leu1924Trp
XM_011524854.1:c.5771T>G XP_011523156.1:p.Leu1924Trp
XM_011524855.1:c.5771T>G XP_011523157.1:p.Leu1924Trp
XM_011524856.1:c.5771T>G XP_011523158.1:p.Leu1924Trp
XM_011524857.1:c.5810T>G XP_011523159.1:p.Leu1937Trp
NM_001042492.3:c.5780T>G MANE Select NP_001035957.1:p.Leu1927Trp