Canonical Allele Identifier: CA399001248
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742570
ClinVar RCV Id: RCV002335325

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265273T>C , CM000679.2:g.31265273T>C GRCh38
NC_000017.10:g.29592291T>C , CM000679.1:g.29592291T>C GRCh37
NC_000017.9:g.26616417T>C NCBI36
NG_009018.1:g.175297T>C , LRG_214:g.175297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.571T>C ENSP00000492721.2:n.571T>C
ENST00000696138.1:c.4751T>C ENSP00000512431.1:p.Leu1584Ser
ENST00000696140.1:n.875T>C
ENST00000696141.1:c.760T>C
ENST00000687863.1:n.1414T>C
ENST00000691014.1:c.4799T>C ENSP00000510595.1:p.Leu1600Ser
ENST00000358273.9:c.4769T>C MANE Select ENSP00000351015.4:p.Leu1590Ser
ENST00000356175.7:c.4706T>C ENSP00000348498.3:p.Leu1569Ser
ENST00000358273.8:c.4769T>C ENSP00000351015.4:p.Leu1590Ser
ENST00000456735.6:c.3704T>C ENSP00000389907.2:p.Leu1235Ser
ENST00000493220.5:n.3242T>C
ENST00000579081.5:c.4808T>C ENSP00000462408.1:p.Leu1603Ser
NM_000267.3:c.4706T>C , LRG_214t1:c.4706T>C NP_000258.1:p.Leu1569Ser
NM_001042492.2:c.4769T>C , LRG_214t2:c.4769T>C NP_001035957.1:p.Leu1590Ser
XM_005257983.1:c.4769T>C XP_005258040.1:p.Leu1590Ser
XM_005257984.1:c.4706T>C XP_005258041.1:p.Leu1569Ser
XM_006721922.1:c.4799T>C XP_006721985.1:p.Leu1600Ser
XM_006721923.2:c.4760T>C XP_006721986.1:p.Leu1587Ser
XM_006721924.1:c.4799T>C XP_006721987.1:p.Leu1600Ser
XM_006721925.1:c.4736T>C XP_006721988.1:p.Leu1579Ser
XM_006721926.2:c.4799T>C XP_006721989.1:p.Leu1600Ser
XM_006721927.1:c.4799T>C XP_006721990.1:p.Leu1600Ser
XM_006721928.2:c.4799T>C XP_006721991.1:p.Leu1600Ser
XM_011524852.1:c.4796T>C XP_011523154.1:p.Leu1599Ser
XM_011524853.1:c.4760T>C XP_011523155.1:p.Leu1587Ser
XM_011524854.1:c.4760T>C XP_011523156.1:p.Leu1587Ser
XM_011524855.1:c.4760T>C XP_011523157.1:p.Leu1587Ser
XM_011524856.1:c.4760T>C XP_011523158.1:p.Leu1587Ser
XM_011524857.1:c.4799T>C XP_011523159.1:p.Leu1600Ser
NM_001042492.3:c.4769T>C MANE Select NP_001035957.1:p.Leu1590Ser