Canonical Allele Identifier: CA399014312
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1755454
ClinVar RCV Id: RCV002369422

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338737T>C , CM000679.2:g.31338737T>C GRCh38
NC_000017.10:g.29665755T>C , CM000679.1:g.29665755T>C GRCh37
NC_000017.9:g.26689881T>C NCBI36
NG_009018.1:g.248761T>C , LRG_214:g.248761T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6835T>C ENSP00000512431.1:p.Tyr2279His
ENST00000684826.1:c.1417T>C ENSP00000509994.1:p.Tyr473His
ENST00000684998.1:n.2675T>C
ENST00000687027.1:c.1009T>C ENSP00000508715.1:p.Tyr337His
ENST00000687863.1:n.3498T>C
ENST00000691014.1:c.6883T>C ENSP00000510595.1:p.Tyr2295His
ENST00000693617.1:c.1417T>C ENSP00000510031.1:p.Tyr473His
ENST00000358273.9:c.6853T>C MANE Select ENSP00000351015.4:p.Tyr2285His
ENST00000356175.7:c.6790T>C ENSP00000348498.3:p.Tyr2264His
ENST00000358273.8:c.6853T>C ENSP00000351015.4:p.Tyr2285His
ENST00000456735.6:c.5788T>C ENSP00000389907.2:p.Tyr1930His
ENST00000471572.6:c.236T>C
ENST00000579081.5:c.6989T>C ENSP00000462408.1:n.6989T>C
ENST00000581790.5:c.64+857T>C
ENST00000584328.1:n.267T>C
NM_000267.3:c.6790T>C , LRG_214t1:c.6790T>C NP_000258.1:p.Tyr2264His
NM_001042492.2:c.6853T>C , LRG_214t2:c.6853T>C NP_001035957.1:p.Tyr2285His
XM_005257983.1:c.6853T>C XP_005258040.1:p.Tyr2285His
XM_005257984.1:c.6790T>C XP_005258041.1:p.Tyr2264His
XM_006721922.1:c.6883T>C XP_006721985.1:p.Tyr2295His
XM_006721923.2:c.6844T>C XP_006721986.1:p.Tyr2282His
XM_006721924.1:c.6883T>C XP_006721987.1:p.Tyr2295His
XM_006721925.1:c.6820T>C XP_006721988.1:p.Tyr2274His
XM_006721926.2:c.6883T>C XP_006721989.1:p.Tyr2295His
XM_006721927.1:c.6883T>C XP_006721990.1:p.Tyr2295His
XM_011524852.1:c.6880T>C XP_011523154.1:p.Tyr2294His
XM_011524853.1:c.6844T>C XP_011523155.1:p.Tyr2282His
XM_011524854.1:c.6844T>C XP_011523156.1:p.Tyr2282His
XM_011524855.1:c.6844T>C XP_011523157.1:p.Tyr2282His
XM_011524856.1:c.6844T>C XP_011523158.1:p.Tyr2282His
XM_011524857.1:c.6883T>C XP_011523159.1:p.Tyr2295His
NM_001042492.3:c.6853T>C MANE Select NP_001035957.1:p.Tyr2285His