Canonical Allele Identifier: CA399015652
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343074T>A , CM000679.2:g.31343074T>A GRCh38
NC_000017.10:g.29670092T>A , CM000679.1:g.29670092T>A GRCh37
NC_000017.9:g.26694218T>A NCBI36
NG_009018.1:g.253098T>A , LRG_214:g.253098T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7110T>A ENSP00000512431.1:p.His2370Gln
ENST00000684826.1:c.1692T>A ENSP00000509994.1:p.His564Gln
ENST00000687027.1:c.1284T>A ENSP00000508715.1:p.His428Gln
ENST00000687863.1:n.3773T>A
ENST00000689464.1:c.67T>A
ENST00000691014.1:c.7158T>A ENSP00000510595.1:p.His2386Gln
ENST00000693617.1:c.1692T>A ENSP00000510031.1:p.His564Gln
ENST00000358273.9:c.7128T>A MANE Select ENSP00000351015.4:p.His2376Gln
ENST00000356175.7:c.7065T>A ENSP00000348498.3:p.His2355Gln
ENST00000358273.8:c.7128T>A ENSP00000351015.4:p.His2376Gln
ENST00000456735.6:c.6063T>A ENSP00000389907.2:p.His2021Gln
ENST00000471572.6:c.511T>A
ENST00000579081.5:c.7264T>A ENSP00000462408.1:n.7264T>A
ENST00000581790.5:c.271T>A
ENST00000582892.1:n.370T>A
ENST00000584328.1:n.542T>A
NM_000267.3:c.7065T>A , LRG_214t1:c.7065T>A NP_000258.1:p.His2355Gln
NM_001042492.2:c.7128T>A , LRG_214t2:c.7128T>A NP_001035957.1:p.His2376Gln
XM_005257983.1:c.7128T>A XP_005258040.1:p.His2376Gln
XM_005257984.1:c.7065T>A XP_005258041.1:p.His2355Gln
XM_006721922.1:c.7158T>A XP_006721985.1:p.His2386Gln
XM_006721923.2:c.7119T>A XP_006721986.1:p.His2373Gln
XM_006721924.1:c.7158T>A XP_006721987.1:p.His2386Gln
XM_006721925.1:c.7095T>A XP_006721988.1:p.His2365Gln
XM_006721926.2:c.7158T>A XP_006721989.1:p.His2386Gln
XM_006721927.1:c.7158T>A XP_006721990.1:p.His2386Gln
XM_011524852.1:c.7155T>A XP_011523154.1:p.His2385Gln
XM_011524853.1:c.7119T>A XP_011523155.1:p.His2373Gln
XM_011524854.1:c.7119T>A XP_011523156.1:p.His2373Gln
XM_011524855.1:c.7119T>A XP_011523157.1:p.His2373Gln
XM_011524856.1:c.7119T>A XP_011523158.1:p.His2373Gln
XM_011524857.1:c.7158T>A XP_011523159.1:p.His2386Gln
NM_001042492.3:c.7128T>A MANE Select NP_001035957.1:p.His2376Gln