Canonical Allele Identifier: CA399015546
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343029G>C , CM000679.2:g.31343029G>C GRCh38
NC_000017.10:g.29670047G>C , CM000679.1:g.29670047G>C GRCh37
NC_000017.9:g.26694173G>C NCBI36
NG_009018.1:g.253053G>C , LRG_214:g.253053G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7065G>C ENSP00000512431.1:p.Met2355Ile
ENST00000684826.1:c.1647G>C ENSP00000509994.1:p.Met549Ile
ENST00000687027.1:c.1239G>C ENSP00000508715.1:p.Met413Ile
ENST00000687863.1:n.3728G>C
ENST00000689464.1:c.22G>C
ENST00000691014.1:c.7113G>C ENSP00000510595.1:p.Met2371Ile
ENST00000693617.1:c.1647G>C ENSP00000510031.1:p.Met549Ile
ENST00000358273.9:c.7083G>C MANE Select ENSP00000351015.4:p.Met2361Ile
ENST00000356175.7:c.7020G>C ENSP00000348498.3:p.Met2340Ile
ENST00000358273.8:c.7083G>C ENSP00000351015.4:p.Met2361Ile
ENST00000456735.6:c.6018G>C ENSP00000389907.2:p.Met2006Ile
ENST00000471572.6:c.466G>C
ENST00000579081.5:c.7219G>C ENSP00000462408.1:n.7219G>C
ENST00000581790.5:c.226G>C
ENST00000582892.1:n.325G>C
ENST00000584328.1:n.497G>C
NM_000267.3:c.7020G>C , LRG_214t1:c.7020G>C NP_000258.1:p.Met2340Ile
NM_001042492.2:c.7083G>C , LRG_214t2:c.7083G>C NP_001035957.1:p.Met2361Ile
XM_005257983.1:c.7083G>C XP_005258040.1:p.Met2361Ile
XM_005257984.1:c.7020G>C XP_005258041.1:p.Met2340Ile
XM_006721922.1:c.7113G>C XP_006721985.1:p.Met2371Ile
XM_006721923.2:c.7074G>C XP_006721986.1:p.Met2358Ile
XM_006721924.1:c.7113G>C XP_006721987.1:p.Met2371Ile
XM_006721925.1:c.7050G>C XP_006721988.1:p.Met2350Ile
XM_006721926.2:c.7113G>C XP_006721989.1:p.Met2371Ile
XM_006721927.1:c.7113G>C XP_006721990.1:p.Met2371Ile
XM_011524852.1:c.7110G>C XP_011523154.1:p.Met2370Ile
XM_011524853.1:c.7074G>C XP_011523155.1:p.Met2358Ile
XM_011524854.1:c.7074G>C XP_011523156.1:p.Met2358Ile
XM_011524855.1:c.7074G>C XP_011523157.1:p.Met2358Ile
XM_011524856.1:c.7074G>C XP_011523158.1:p.Met2358Ile
XM_011524857.1:c.7113G>C XP_011523159.1:p.Met2371Ile
NM_001042492.3:c.7083G>C MANE Select NP_001035957.1:p.Met2361Ile