Canonical Allele Identifier: CA399014315
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151559187

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338738A>G , CM000679.2:g.31338738A>G GRCh38
NC_000017.10:g.29665756A>G , CM000679.1:g.29665756A>G GRCh37
NC_000017.9:g.26689882A>G NCBI36
NG_009018.1:g.248762A>G , LRG_214:g.248762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6836A>G ENSP00000512431.1:p.Tyr2279Cys
ENST00000684826.1:c.1418A>G ENSP00000509994.1:p.Tyr473Cys
ENST00000684998.1:n.2676A>G
ENST00000687027.1:c.1010A>G ENSP00000508715.1:p.Tyr337Cys
ENST00000687863.1:n.3499A>G
ENST00000691014.1:c.6884A>G ENSP00000510595.1:p.Tyr2295Cys
ENST00000693617.1:c.1418A>G ENSP00000510031.1:p.Tyr473Cys
ENST00000358273.9:c.6854A>G MANE Select ENSP00000351015.4:p.Tyr2285Cys
ENST00000356175.7:c.6791A>G ENSP00000348498.3:p.Tyr2264Cys
ENST00000358273.8:c.6854A>G ENSP00000351015.4:p.Tyr2285Cys
ENST00000456735.6:c.5789A>G ENSP00000389907.2:p.Tyr1930Cys
ENST00000471572.6:c.237A>G
ENST00000579081.5:c.6990A>G ENSP00000462408.1:n.6990A>G
ENST00000581790.5:c.64+858A>G
ENST00000584328.1:n.268A>G
NM_000267.3:c.6791A>G , LRG_214t1:c.6791A>G NP_000258.1:p.Tyr2264Cys
NM_001042492.2:c.6854A>G , LRG_214t2:c.6854A>G NP_001035957.1:p.Tyr2285Cys
XM_005257983.1:c.6854A>G XP_005258040.1:p.Tyr2285Cys
XM_005257984.1:c.6791A>G XP_005258041.1:p.Tyr2264Cys
XM_006721922.1:c.6884A>G XP_006721985.1:p.Tyr2295Cys
XM_006721923.2:c.6845A>G XP_006721986.1:p.Tyr2282Cys
XM_006721924.1:c.6884A>G XP_006721987.1:p.Tyr2295Cys
XM_006721925.1:c.6821A>G XP_006721988.1:p.Tyr2274Cys
XM_006721926.2:c.6884A>G XP_006721989.1:p.Tyr2295Cys
XM_006721927.1:c.6884A>G XP_006721990.1:p.Tyr2295Cys
XM_011524852.1:c.6881A>G XP_011523154.1:p.Tyr2294Cys
XM_011524853.1:c.6845A>G XP_011523155.1:p.Tyr2282Cys
XM_011524854.1:c.6845A>G XP_011523156.1:p.Tyr2282Cys
XM_011524855.1:c.6845A>G XP_011523157.1:p.Tyr2282Cys
XM_011524856.1:c.6845A>G XP_011523158.1:p.Tyr2282Cys
XM_011524857.1:c.6884A>G XP_011523159.1:p.Tyr2295Cys
NM_001042492.3:c.6854A>G MANE Select NP_001035957.1:p.Tyr2285Cys