Canonical Allele Identifier: CA16615644
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404417
ClinVar RCV Id: RCV002318495
dbSNP Id: rs1060500242

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260496C>T , CM000679.2:g.31260496C>T GRCh38
NC_000017.10:g.29587514C>T , CM000679.1:g.29587514C>T GRCh37
NC_000017.9:g.26611640C>T NCBI36
NG_009018.1:g.170520C>T , LRG_214:g.170520C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.346C>T ENSP00000492721.2:p.Gln116Ter
ENST00000696138.1:c.4540C>T ENSP00000512431.1:p.Gln1514Ter
ENST00000696140.1:n.664C>T
ENST00000696141.1:c.549C>T
ENST00000687863.1:n.1203C>T
ENST00000691014.1:c.4588C>T ENSP00000510595.1:p.Gln1530Ter
ENST00000691649.1:n.1769C>T
ENST00000358273.9:c.4558C>T MANE Select ENSP00000351015.4:p.Gln1520Ter
ENST00000356175.7:c.4495C>T ENSP00000348498.3:p.Gln1499Ter
ENST00000358273.8:c.4558C>T ENSP00000351015.4:p.Gln1520Ter
ENST00000456735.6:c.3493C>T ENSP00000389907.2:p.Gln1165Ter
ENST00000466819.5:c.1074C>T
ENST00000479614.1:c.1011C>T
ENST00000493220.5:n.3031C>T
ENST00000579081.5:c.4597C>T ENSP00000462408.1:p.Gln1533Ter
NM_000267.3:c.4495C>T , LRG_214t1:c.4495C>T NP_000258.1:p.Gln1499Ter
NM_001042492.2:c.4558C>T , LRG_214t2:c.4558C>T NP_001035957.1:p.Gln1520Ter
XM_005257983.1:c.4558C>T XP_005258040.1:p.Gln1520Ter
XM_005257984.1:c.4495C>T XP_005258041.1:p.Gln1499Ter
XM_006721922.1:c.4588C>T XP_006721985.1:p.Gln1530Ter
XM_006721923.2:c.4549C>T XP_006721986.1:p.Gln1517Ter
XM_006721924.1:c.4588C>T XP_006721987.1:p.Gln1530Ter
XM_006721925.1:c.4525C>T XP_006721988.1:p.Gln1509Ter
XM_006721926.2:c.4588C>T XP_006721989.1:p.Gln1530Ter
XM_006721927.1:c.4588C>T XP_006721990.1:p.Gln1530Ter
XM_006721928.2:c.4588C>T XP_006721991.1:p.Gln1530Ter
XM_011524852.1:c.4585C>T XP_011523154.1:p.Gln1529Ter
XM_011524853.1:c.4549C>T XP_011523155.1:p.Gln1517Ter
XM_011524854.1:c.4549C>T XP_011523156.1:p.Gln1517Ter
XM_011524855.1:c.4549C>T XP_011523157.1:p.Gln1517Ter
XM_011524856.1:c.4549C>T XP_011523158.1:p.Gln1517Ter
XM_011524857.1:c.4588C>T XP_011523159.1:p.Gln1530Ter
NM_001042492.3:c.4558C>T MANE Select NP_001035957.1:p.Gln1520Ter