Canonical Allele Identifier: CA499234309
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151558367
MyVariant Identifiers: chr17:g.29665142C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338124C>T , CM000679.2:g.31338124C>T GRCh38
NC_000017.10:g.29665142C>T , CM000679.1:g.29665142C>T GRCh37
NC_000017.9:g.26689268C>T NCBI36
NG_009018.1:g.248148C>T , LRG_214:g.248148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6786C>T ENSP00000512431.1:p.Ile2262=
ENST00000684826.1:c.1368C>T ENSP00000509994.1:p.Ile456=
ENST00000684998.1:n.2062C>T
ENST00000687027.1:c.960C>T ENSP00000508715.1:p.Ile320=
ENST00000687863.1:n.3449C>T
ENST00000691014.1:c.6834C>T ENSP00000510595.1:p.Ile2278=
ENST00000693617.1:c.1368C>T ENSP00000510031.1:p.Ile456=
ENST00000358273.9:c.6804C>T MANE Select ENSP00000351015.4:p.Ile2268=
ENST00000356175.7:c.6741C>T ENSP00000348498.3:p.Ile2247=
ENST00000358273.8:c.6804C>T ENSP00000351015.4:p.Ile2268=
ENST00000456735.6:c.5739C>T ENSP00000389907.2:p.Ile1913=
ENST00000471572.6:c.187C>T
ENST00000579081.5:c.6940C>T ENSP00000462408.1:n.6940C>T
ENST00000581790.5:c.64+244C>T
ENST00000584328.1:n.218C>T
NM_000267.3:c.6741C>T , LRG_214t1:c.6741C>T NP_000258.1:p.Ile2247=
NM_001042492.2:c.6804C>T , LRG_214t2:c.6804C>T NP_001035957.1:p.Ile2268=
XM_005257983.1:c.6804C>T XP_005258040.1:p.Ile2268=
XM_005257984.1:c.6741C>T XP_005258041.1:p.Ile2247=
XM_006721922.1:c.6834C>T XP_006721985.1:p.Ile2278=
XM_006721923.2:c.6795C>T XP_006721986.1:p.Ile2265=
XM_006721924.1:c.6834C>T XP_006721987.1:p.Ile2278=
XM_006721925.1:c.6771C>T XP_006721988.1:p.Ile2257=
XM_006721926.2:c.6834C>T XP_006721989.1:p.Ile2278=
XM_006721927.1:c.6834C>T XP_006721990.1:p.Ile2278=
XM_011524852.1:c.6831C>T XP_011523154.1:p.Ile2277=
XM_011524853.1:c.6795C>T XP_011523155.1:p.Ile2265=
XM_011524854.1:c.6795C>T XP_011523156.1:p.Ile2265=
XM_011524855.1:c.6795C>T XP_011523157.1:p.Ile2265=
XM_011524856.1:c.6795C>T XP_011523158.1:p.Ile2265=
XM_011524857.1:c.6834C>T XP_011523159.1:p.Ile2278=
NM_001042492.3:c.6804C>T MANE Select NP_001035957.1:p.Ile2268=