Canonical Allele Identifier: CA8487123
Community Standard Title: NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325942G>A , CM000679.2:g.31325942G>A GRCh38
NC_000017.10:g.29652960G>A , CM000679.1:g.29652960G>A GRCh37
NC_000017.9:g.26677086G>A NCBI36
NG_009018.1:g.235966G>A , LRG_214:g.235966G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4958G>A MANE Select NP_001035957.1:p.Arg1653His
ENST00000358273.9:c.4958G>A MANE Select ENSP00000351015.4:p.Arg1653His
NM_000267.3:c.4895G>A , LRG_214t1:c.4895G>A NP_000258.1:p.Arg1632His
NM_001042492.2:c.4958G>A , LRG_214t2:c.4958G>A NP_001035957.1:p.Arg1653His
ENST00000356175.7:c.4895G>A ENSP00000348498.3:p.Arg1632His
ENST00000358273.8:c.4958G>A ENSP00000351015.4:p.Arg1653His
ENST00000456735.6:c.3893G>A ENSP00000389907.2:p.Arg1298His
ENST00000493220.5:n.3431G>A
ENST00000579081.5:c.5094G>A ENSP00000462408.1:n.5094G>A
ENST00000581113.6:n.275G>A
ENST00000581113.7:c.1146G>A ENSP00000492721.2:n.1146G>A
ENST00000684826.1:c.-479G>A ENSP00000509994.1:n.-479G>A
ENST00000687027.1:c.-546G>A ENSP00000508715.1:n.-546G>A
ENST00000687863.1:n.1603G>A
ENST00000691014.1:c.4988G>A ENSP00000510595.1:p.Arg1663His
ENST00000693617.1:c.-479G>A ENSP00000510031.1:n.-479G>A
ENST00000696138.1:c.4940G>A ENSP00000512431.1:p.Arg1647His
XM_005257983.1:c.4958G>A XP_005258040.1:p.Arg1653His
XM_005257984.1:c.4895G>A XP_005258041.1:p.Arg1632His
XM_006721922.1:c.4988G>A XP_006721985.1:p.Arg1663His
XM_006721923.2:c.4949G>A XP_006721986.1:p.Arg1650His
XM_006721924.1:c.4988G>A XP_006721987.1:p.Arg1663His
XM_006721925.1:c.4925G>A XP_006721988.1:p.Arg1642His
XM_006721926.2:c.4988G>A XP_006721989.1:p.Arg1663His
XM_006721927.1:c.4988G>A XP_006721990.1:p.Arg1663His
XM_011524852.1:c.4985G>A XP_011523154.1:p.Arg1662His
XM_011524853.1:c.4949G>A XP_011523155.1:p.Arg1650His
XM_011524854.1:c.4949G>A XP_011523156.1:p.Arg1650His
XM_011524855.1:c.4949G>A XP_011523157.1:p.Arg1650His
XM_011524856.1:c.4949G>A XP_011523158.1:p.Arg1650His
XM_011524857.1:c.4988G>A XP_011523159.1:p.Arg1663His