Canonical Allele Identifier: CA16615194
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404504
dbSNP Id: rs1060500308

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31235665C>T , CM000679.2:g.31235665C>T GRCh38
NC_000017.10:g.29562683C>T , CM000679.1:g.29562683C>T GRCh37
NC_000017.9:g.26586809C>T NCBI36
NG_009018.1:g.145689C>T , LRG_214:g.145689C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.3808C>T ENSP00000512431.1:p.Gln1270Ter
ENST00000696139.1:c.1108C>T ENSP00000512432.1:p.Gln370Ter
ENST00000687863.1:n.471C>T
ENST00000691014.1:c.3793C>T ENSP00000510595.1:p.Gln1265Ter
ENST00000358273.9:c.3763C>T MANE Select ENSP00000351015.4:p.Gln1255Ter
ENST00000356175.7:c.3763C>T ENSP00000348498.3:p.Gln1255Ter
ENST00000358273.8:c.3763C>T ENSP00000351015.4:p.Gln1255Ter
ENST00000456735.6:c.2761C>T ENSP00000389907.2:p.Gln921Ter
ENST00000466819.5:c.239C>T
ENST00000479614.1:c.239C>T
ENST00000493220.5:n.2299C>T
ENST00000495910.6:c.3538C>T
ENST00000579081.5:c.3865C>T ENSP00000462408.1:p.Gln1289Ter
NM_000267.3:c.3763C>T , LRG_214t1:c.3763C>T NP_000258.1:p.Gln1255Ter
NM_001042492.2:c.3763C>T , LRG_214t2:c.3763C>T NP_001035957.1:p.Gln1255Ter
XM_005257983.1:c.3763C>T XP_005258040.1:p.Gln1255Ter
XM_005257984.1:c.3763C>T XP_005258041.1:p.Gln1255Ter
XM_006721922.1:c.3793C>T XP_006721985.1:p.Gln1265Ter
XM_006721923.2:c.3754C>T XP_006721986.1:p.Gln1252Ter
XM_006721924.1:c.3793C>T XP_006721987.1:p.Gln1265Ter
XM_006721925.1:c.3793C>T XP_006721988.1:p.Gln1265Ter
XM_006721926.2:c.3793C>T XP_006721989.1:p.Gln1265Ter
XM_006721927.1:c.3793C>T XP_006721990.1:p.Gln1265Ter
XM_006721928.2:c.3793C>T XP_006721991.1:p.Gln1265Ter
XM_011524852.1:c.3790C>T XP_011523154.1:p.Gln1264Ter
XM_011524853.1:c.3754C>T XP_011523155.1:p.Gln1252Ter
XM_011524854.1:c.3754C>T XP_011523156.1:p.Gln1252Ter
XM_011524855.1:c.3754C>T XP_011523157.1:p.Gln1252Ter
XM_011524856.1:c.3754C>T XP_011523158.1:p.Gln1252Ter
XM_011524857.1:c.3793C>T XP_011523159.1:p.Gln1265Ter
NM_001042492.3:c.3763C>T MANE Select NP_001035957.1:p.Gln1255Ter