Canonical Allele Identifier: CA398999927
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2819086
ClinVar RCV Id: RCV003599145
dbSNP Id: rs2151464842

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260503T>C , CM000679.2:g.31260503T>C GRCh38
NC_000017.10:g.29587521T>C , CM000679.1:g.29587521T>C GRCh37
NC_000017.9:g.26611647T>C NCBI36
NG_009018.1:g.170527T>C , LRG_214:g.170527T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.353T>C ENSP00000492721.2:p.Leu118Pro
ENST00000696138.1:c.4547T>C ENSP00000512431.1:p.Leu1516Pro
ENST00000696140.1:n.671T>C
ENST00000696141.1:c.556T>C
ENST00000687863.1:n.1210T>C
ENST00000691014.1:c.4595T>C ENSP00000510595.1:p.Leu1532Pro
ENST00000691649.1:n.1776T>C
ENST00000358273.9:c.4565T>C MANE Select ENSP00000351015.4:p.Leu1522Pro
ENST00000356175.7:c.4502T>C ENSP00000348498.3:p.Leu1501Pro
ENST00000358273.8:c.4565T>C ENSP00000351015.4:p.Leu1522Pro
ENST00000456735.6:c.3500T>C ENSP00000389907.2:p.Leu1167Pro
ENST00000466819.5:c.1081T>C
ENST00000479614.1:c.1018T>C
ENST00000493220.5:n.3038T>C
ENST00000579081.5:c.4604T>C ENSP00000462408.1:p.Leu1535Pro
NM_000267.3:c.4502T>C , LRG_214t1:c.4502T>C NP_000258.1:p.Leu1501Pro
NM_001042492.2:c.4565T>C , LRG_214t2:c.4565T>C NP_001035957.1:p.Leu1522Pro
XM_005257983.1:c.4565T>C XP_005258040.1:p.Leu1522Pro
XM_005257984.1:c.4502T>C XP_005258041.1:p.Leu1501Pro
XM_006721922.1:c.4595T>C XP_006721985.1:p.Leu1532Pro
XM_006721923.2:c.4556T>C XP_006721986.1:p.Leu1519Pro
XM_006721924.1:c.4595T>C XP_006721987.1:p.Leu1532Pro
XM_006721925.1:c.4532T>C XP_006721988.1:p.Leu1511Pro
XM_006721926.2:c.4595T>C XP_006721989.1:p.Leu1532Pro
XM_006721927.1:c.4595T>C XP_006721990.1:p.Leu1532Pro
XM_006721928.2:c.4595T>C XP_006721991.1:p.Leu1532Pro
XM_011524852.1:c.4592T>C XP_011523154.1:p.Leu1531Pro
XM_011524853.1:c.4556T>C XP_011523155.1:p.Leu1519Pro
XM_011524854.1:c.4556T>C XP_011523156.1:p.Leu1519Pro
XM_011524855.1:c.4556T>C XP_011523157.1:p.Leu1519Pro
XM_011524856.1:c.4556T>C XP_011523158.1:p.Leu1519Pro
XM_011524857.1:c.4595T>C XP_011523159.1:p.Leu1532Pro
NM_001042492.3:c.4565T>C MANE Select NP_001035957.1:p.Leu1522Pro