Canonical Allele Identifier: CA399006893
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151537493

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325827A>T , CM000679.2:g.31325827A>T GRCh38
NC_000017.10:g.29652845A>T , CM000679.1:g.29652845A>T GRCh37
NC_000017.9:g.26676971A>T NCBI36
NG_009018.1:g.235851A>T , LRG_214:g.235851A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.1031A>T ENSP00000492721.2:n.1031A>T
ENST00000696138.1:c.4825A>T ENSP00000512431.1:p.Thr1609Ser
ENST00000684826.1:c.-594A>T ENSP00000509994.1:n.-594A>T
ENST00000687027.1:c.-661A>T ENSP00000508715.1:n.-661A>T
ENST00000687863.1:n.1488A>T
ENST00000691014.1:c.4873A>T ENSP00000510595.1:p.Thr1625Ser
ENST00000693617.1:c.-594A>T ENSP00000510031.1:n.-594A>T
ENST00000358273.9:c.4843A>T MANE Select ENSP00000351015.4:p.Thr1615Ser
ENST00000356175.7:c.4780A>T ENSP00000348498.3:p.Thr1594Ser
ENST00000358273.8:c.4843A>T ENSP00000351015.4:p.Thr1615Ser
ENST00000456735.6:c.3778A>T ENSP00000389907.2:p.Thr1260Ser
ENST00000493220.5:n.3316A>T
ENST00000579081.5:c.4979A>T ENSP00000462408.1:n.4979A>T
ENST00000581113.6:n.160A>T
NM_000267.3:c.4780A>T , LRG_214t1:c.4780A>T NP_000258.1:p.Thr1594Ser
NM_001042492.2:c.4843A>T , LRG_214t2:c.4843A>T NP_001035957.1:p.Thr1615Ser
XM_005257983.1:c.4843A>T XP_005258040.1:p.Thr1615Ser
XM_005257984.1:c.4780A>T XP_005258041.1:p.Thr1594Ser
XM_006721922.1:c.4873A>T XP_006721985.1:p.Thr1625Ser
XM_006721923.2:c.4834A>T XP_006721986.1:p.Thr1612Ser
XM_006721924.1:c.4873A>T XP_006721987.1:p.Thr1625Ser
XM_006721925.1:c.4810A>T XP_006721988.1:p.Thr1604Ser
XM_006721926.2:c.4873A>T XP_006721989.1:p.Thr1625Ser
XM_006721927.1:c.4873A>T XP_006721990.1:p.Thr1625Ser
XM_011524852.1:c.4870A>T XP_011523154.1:p.Thr1624Ser
XM_011524853.1:c.4834A>T XP_011523155.1:p.Thr1612Ser
XM_011524854.1:c.4834A>T XP_011523156.1:p.Thr1612Ser
XM_011524855.1:c.4834A>T XP_011523157.1:p.Thr1612Ser
XM_011524856.1:c.4834A>T XP_011523158.1:p.Thr1612Ser
XM_011524857.1:c.4873A>T XP_011523159.1:p.Thr1625Ser
NM_001042492.3:c.4843A>T MANE Select NP_001035957.1:p.Thr1615Ser