Canonical Allele Identifier: CA399001138
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 484015
dbSNP Id: rs1555619391

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265228G>A , CM000679.2:g.31265228G>A GRCh38
NC_000017.10:g.29592246G>A , CM000679.1:g.29592246G>A GRCh37
NC_000017.9:g.26616372G>A NCBI36
NG_009018.1:g.175252G>A , LRG_214:g.175252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.527-1G>A ENSP00000492721.2:n.527-1G>A
ENST00000696138.1:c.4707-1G>A ENSP00000512431.1:n.4707-1G>A
ENST00000696140.1:n.831-1G>A
ENST00000696141.1:c.716-1G>A
ENST00000687863.1:n.1370-1G>A
ENST00000691014.1:c.4755-1G>A ENSP00000510595.1:n.4755-1G>A
ENST00000358273.9:c.4725-1G>A MANE Select ENSP00000351015.4:n.4725-1G>A
ENST00000356175.7:c.4662-1G>A ENSP00000348498.3:n.4662-1G>A
ENST00000358273.8:c.4725-1G>A ENSP00000351015.4:n.4725-1G>A
ENST00000456735.6:c.3660-1G>A ENSP00000389907.2:n.3660-1G>A
ENST00000493220.5:n.3198-1G>A
ENST00000579081.5:c.4764-1G>A ENSP00000462408.1:n.4764-1G>A
NM_000267.3:c.4662-1G>A , LRG_214t1:c.4662-1G>A NP_000258.1:n.4662-1G>A
NM_001042492.2:c.4725-1G>A , LRG_214t2:c.4725-1G>A NP_001035957.1:n.4725-1G>A
XM_005257983.1:c.4725-1G>A XP_005258040.1:n.4725-1G>A
XM_005257984.1:c.4662-1G>A XP_005258041.1:n.4662-1G>A
XM_006721922.1:c.4755-1G>A XP_006721985.1:n.4755-1G>A
XM_006721923.2:c.4716-1G>A XP_006721986.1:n.4716-1G>A
XM_006721924.1:c.4755-1G>A XP_006721987.1:n.4755-1G>A
XM_006721925.1:c.4692-1G>A XP_006721988.1:n.4692-1G>A
XM_006721926.2:c.4755-1G>A XP_006721989.1:n.4755-1G>A
XM_006721927.1:c.4755-1G>A XP_006721990.1:n.4755-1G>A
XM_006721928.2:c.4755-1G>A XP_006721991.1:n.4755-1G>A
XM_011524852.1:c.4752-1G>A XP_011523154.1:n.4752-1G>A
XM_011524853.1:c.4716-1G>A XP_011523155.1:n.4716-1G>A
XM_011524854.1:c.4716-1G>A XP_011523156.1:n.4716-1G>A
XM_011524855.1:c.4716-1G>A XP_011523157.1:n.4716-1G>A
XM_011524856.1:c.4716-1G>A XP_011523158.1:n.4716-1G>A
XM_011524857.1:c.4755-1G>A XP_011523159.1:n.4755-1G>A
NM_001042492.3:c.4725-1G>A MANE Select NP_001035957.1:n.4725-1G>A