Canonical Allele Identifier: CA399014092
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699382
ClinVar RCV Id: RCV003496062
dbSNP Id: rs2151558200

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338077G>C , CM000679.2:g.31338077G>C GRCh38
NC_000017.10:g.29665095G>C , CM000679.1:g.29665095G>C GRCh37
NC_000017.9:g.26689221G>C NCBI36
NG_009018.1:g.248101G>C , LRG_214:g.248101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6739G>C ENSP00000512431.1:p.Gly2247Arg
ENST00000684826.1:c.1321G>C ENSP00000509994.1:p.Gly441Arg
ENST00000684998.1:n.2015G>C
ENST00000687027.1:c.913G>C ENSP00000508715.1:p.Gly305Arg
ENST00000687863.1:n.3402G>C
ENST00000691014.1:c.6787G>C ENSP00000510595.1:p.Gly2263Arg
ENST00000693617.1:c.1321G>C ENSP00000510031.1:p.Gly441Arg
ENST00000358273.9:c.6757G>C MANE Select ENSP00000351015.4:p.Gly2253Arg
ENST00000356175.7:c.6694G>C ENSP00000348498.3:p.Gly2232Arg
ENST00000358273.8:c.6757G>C ENSP00000351015.4:p.Gly2253Arg
ENST00000456735.6:c.5692G>C ENSP00000389907.2:p.Gly1898Arg
ENST00000471572.6:c.140G>C
ENST00000579081.5:c.6893G>C ENSP00000462408.1:n.6893G>C
ENST00000581790.5:c.64+197G>C
ENST00000584328.1:n.171G>C
NM_000267.3:c.6694G>C , LRG_214t1:c.6694G>C NP_000258.1:p.Gly2232Arg
NM_001042492.2:c.6757G>C , LRG_214t2:c.6757G>C NP_001035957.1:p.Gly2253Arg
XM_005257983.1:c.6757G>C XP_005258040.1:p.Gly2253Arg
XM_005257984.1:c.6694G>C XP_005258041.1:p.Gly2232Arg
XM_006721922.1:c.6787G>C XP_006721985.1:p.Gly2263Arg
XM_006721923.2:c.6748G>C XP_006721986.1:p.Gly2250Arg
XM_006721924.1:c.6787G>C XP_006721987.1:p.Gly2263Arg
XM_006721925.1:c.6724G>C XP_006721988.1:p.Gly2242Arg
XM_006721926.2:c.6787G>C XP_006721989.1:p.Gly2263Arg
XM_006721927.1:c.6787G>C XP_006721990.1:p.Gly2263Arg
XM_011524852.1:c.6784G>C XP_011523154.1:p.Gly2262Arg
XM_011524853.1:c.6748G>C XP_011523155.1:p.Gly2250Arg
XM_011524854.1:c.6748G>C XP_011523156.1:p.Gly2250Arg
XM_011524855.1:c.6748G>C XP_011523157.1:p.Gly2250Arg
XM_011524856.1:c.6748G>C XP_011523158.1:p.Gly2250Arg
XM_011524857.1:c.6787G>C XP_011523159.1:p.Gly2263Arg
NM_001042492.3:c.6757G>C MANE Select NP_001035957.1:p.Gly2253Arg