Canonical Allele Identifier: CA2733224923
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1060500246

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260518A>T , CM000679.2:g.31260518A>T GRCh38
NC_000017.10:g.29587536A>T , CM000679.1:g.29587536A>T GRCh37
NC_000017.9:g.26611662A>T NCBI36
NG_009018.1:g.170542A>T , LRG_214:g.170542A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.365+3A>T ENSP00000492721.2:n.365+3A>T
ENST00000696138.1:c.4559+3A>T ENSP00000512431.1:n.4559+3A>T
ENST00000696140.1:n.683+3A>T
ENST00000696141.1:c.568+3A>T
ENST00000687863.1:n.1222+3A>T
ENST00000691014.1:c.4607+3A>T ENSP00000510595.1:n.4607+3A>T
ENST00000691649.1:n.1791A>T
ENST00000358273.9:c.4577+3A>T MANE Select ENSP00000351015.4:n.4577+3A>T
ENST00000356175.7:c.4514+3A>T ENSP00000348498.3:n.4514+3A>T
ENST00000358273.8:c.4577+3A>T ENSP00000351015.4:n.4577+3A>T
ENST00000456735.6:c.3512+3A>T ENSP00000389907.2:n.3512+3A>T
ENST00000466819.5:c.1093+3A>T
ENST00000479614.1:c.1030+3A>T
ENST00000493220.5:n.3050+3A>T
ENST00000579081.5:c.4616+3A>T ENSP00000462408.1:n.4616+3A>T
NM_000267.3:c.4514+3A>T , LRG_214t1:c.4514+3A>T NP_000258.1:n.4514+3A>T
NM_001042492.2:c.4577+3A>T , LRG_214t2:c.4577+3A>T NP_001035957.1:n.4577+3A>T
XM_005257983.1:c.4577+3A>T XP_005258040.1:n.4577+3A>T
XM_005257984.1:c.4514+3A>T XP_005258041.1:n.4514+3A>T
XM_006721922.1:c.4607+3A>T XP_006721985.1:n.4607+3A>T
XM_006721923.2:c.4568+3A>T XP_006721986.1:n.4568+3A>T
XM_006721924.1:c.4607+3A>T XP_006721987.1:n.4607+3A>T
XM_006721925.1:c.4544+3A>T XP_006721988.1:n.4544+3A>T
XM_006721926.2:c.4607+3A>T XP_006721989.1:n.4607+3A>T
XM_006721927.1:c.4607+3A>T XP_006721990.1:n.4607+3A>T
XM_006721928.2:c.4607+3A>T XP_006721991.1:n.4607+3A>T
XM_011524852.1:c.4604+3A>T XP_011523154.1:n.4604+3A>T
XM_011524853.1:c.4568+3A>T XP_011523155.1:n.4568+3A>T
XM_011524854.1:c.4568+3A>T XP_011523156.1:n.4568+3A>T
XM_011524855.1:c.4568+3A>T XP_011523157.1:n.4568+3A>T
XM_011524856.1:c.4568+3A>T XP_011523158.1:n.4568+3A>T
XM_011524857.1:c.4607+3A>T XP_011523159.1:n.4607+3A>T
NM_001042492.3:c.4577+3A>T MANE Select NP_001035957.1:n.4577+3A>T