Canonical Allele Identifier: CA399015574
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151565030

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343042C>G , CM000679.2:g.31343042C>G GRCh38
NC_000017.10:g.29670060C>G , CM000679.1:g.29670060C>G GRCh37
NC_000017.9:g.26694186C>G NCBI36
NG_009018.1:g.253066C>G , LRG_214:g.253066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7078C>G ENSP00000512431.1:p.Pro2360Ala
ENST00000684826.1:c.1660C>G ENSP00000509994.1:p.Pro554Ala
ENST00000687027.1:c.1252C>G ENSP00000508715.1:p.Pro418Ala
ENST00000687863.1:n.3741C>G
ENST00000689464.1:c.35C>G
ENST00000691014.1:c.7126C>G ENSP00000510595.1:p.Pro2376Ala
ENST00000693617.1:c.1660C>G ENSP00000510031.1:p.Pro554Ala
ENST00000358273.9:c.7096C>G MANE Select ENSP00000351015.4:p.Pro2366Ala
ENST00000356175.7:c.7033C>G ENSP00000348498.3:p.Pro2345Ala
ENST00000358273.8:c.7096C>G ENSP00000351015.4:p.Pro2366Ala
ENST00000456735.6:c.6031C>G ENSP00000389907.2:p.Pro2011Ala
ENST00000471572.6:c.479C>G
ENST00000579081.5:c.7232C>G ENSP00000462408.1:n.7232C>G
ENST00000581790.5:c.239C>G
ENST00000582892.1:n.338C>G
ENST00000584328.1:n.510C>G
NM_000267.3:c.7033C>G , LRG_214t1:c.7033C>G NP_000258.1:p.Pro2345Ala
NM_001042492.2:c.7096C>G , LRG_214t2:c.7096C>G NP_001035957.1:p.Pro2366Ala
XM_005257983.1:c.7096C>G XP_005258040.1:p.Pro2366Ala
XM_005257984.1:c.7033C>G XP_005258041.1:p.Pro2345Ala
XM_006721922.1:c.7126C>G XP_006721985.1:p.Pro2376Ala
XM_006721923.2:c.7087C>G XP_006721986.1:p.Pro2363Ala
XM_006721924.1:c.7126C>G XP_006721987.1:p.Pro2376Ala
XM_006721925.1:c.7063C>G XP_006721988.1:p.Pro2355Ala
XM_006721926.2:c.7126C>G XP_006721989.1:p.Pro2376Ala
XM_006721927.1:c.7126C>G XP_006721990.1:p.Pro2376Ala
XM_011524852.1:c.7123C>G XP_011523154.1:p.Pro2375Ala
XM_011524853.1:c.7087C>G XP_011523155.1:p.Pro2363Ala
XM_011524854.1:c.7087C>G XP_011523156.1:p.Pro2363Ala
XM_011524855.1:c.7087C>G XP_011523157.1:p.Pro2363Ala
XM_011524856.1:c.7087C>G XP_011523158.1:p.Pro2363Ala
XM_011524857.1:c.7126C>G XP_011523159.1:p.Pro2376Ala
NM_001042492.3:c.7096C>G MANE Select NP_001035957.1:p.Pro2366Ala