Canonical Allele Identifier: CA399015713
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343101C>G , CM000679.2:g.31343101C>G GRCh38
NC_000017.10:g.29670119C>G , CM000679.1:g.29670119C>G GRCh37
NC_000017.9:g.26694245C>G NCBI36
NG_009018.1:g.253125C>G , LRG_214:g.253125C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7137C>G ENSP00000512431.1:p.Asn2379Lys
ENST00000684826.1:c.1719C>G ENSP00000509994.1:p.Asn573Lys
ENST00000687027.1:c.1311C>G ENSP00000508715.1:p.Asn437Lys
ENST00000687863.1:n.3800C>G
ENST00000689464.1:c.94C>G
ENST00000691014.1:c.7185C>G ENSP00000510595.1:p.Asn2395Lys
ENST00000693617.1:c.1719C>G ENSP00000510031.1:p.Asn573Lys
ENST00000358273.9:c.7155C>G MANE Select ENSP00000351015.4:p.Asn2385Lys
ENST00000356175.7:c.7092C>G ENSP00000348498.3:p.Asn2364Lys
ENST00000358273.8:c.7155C>G ENSP00000351015.4:p.Asn2385Lys
ENST00000456735.6:c.6090C>G ENSP00000389907.2:p.Asn2030Lys
ENST00000471572.6:c.538C>G
ENST00000579081.5:c.7291C>G ENSP00000462408.1:n.7291C>G
ENST00000581790.5:c.298C>G
ENST00000582892.1:n.397C>G
NM_000267.3:c.7092C>G , LRG_214t1:c.7092C>G NP_000258.1:p.Asn2364Lys
NM_001042492.2:c.7155C>G , LRG_214t2:c.7155C>G NP_001035957.1:p.Asn2385Lys
XM_005257983.1:c.7155C>G XP_005258040.1:p.Asn2385Lys
XM_005257984.1:c.7092C>G XP_005258041.1:p.Asn2364Lys
XM_006721922.1:c.7185C>G XP_006721985.1:p.Asn2395Lys
XM_006721923.2:c.7146C>G XP_006721986.1:p.Asn2382Lys
XM_006721924.1:c.7185C>G XP_006721987.1:p.Asn2395Lys
XM_006721925.1:c.7122C>G XP_006721988.1:p.Asn2374Lys
XM_006721926.2:c.7185C>G XP_006721989.1:p.Asn2395Lys
XM_006721927.1:c.7185C>G XP_006721990.1:p.Asn2395Lys
XM_011524852.1:c.7182C>G XP_011523154.1:p.Asn2394Lys
XM_011524853.1:c.7146C>G XP_011523155.1:p.Asn2382Lys
XM_011524854.1:c.7146C>G XP_011523156.1:p.Asn2382Lys
XM_011524855.1:c.7146C>G XP_011523157.1:p.Asn2382Lys
XM_011524856.1:c.7146C>G XP_011523158.1:p.Asn2382Lys
XM_011524857.1:c.7185C>G XP_011523159.1:p.Asn2395Lys
NM_001042492.3:c.7155C>G MANE Select NP_001035957.1:p.Asn2385Lys