Canonical Allele Identifier: CA169320
Community Standard Title: NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338126G>A , CM000679.2:g.31338126G>A GRCh38
NC_000017.10:g.29665144G>A , CM000679.1:g.29665144G>A GRCh37
NC_000017.9:g.26689270G>A NCBI36
NG_009018.1:g.248150G>A , LRG_214:g.248150G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.6806G>A MANE Select NP_001035957.1:p.Arg2269His
ENST00000358273.9:c.6806G>A MANE Select ENSP00000351015.4:p.Arg2269His
NM_000267.3:c.6743G>A , LRG_214t1:c.6743G>A NP_000258.1:p.Arg2248His
NM_001042492.2:c.6806G>A , LRG_214t2:c.6806G>A NP_001035957.1:p.Arg2269His
ENST00000356175.7:c.6743G>A ENSP00000348498.3:p.Arg2248His
ENST00000358273.8:c.6806G>A ENSP00000351015.4:p.Arg2269His
ENST00000456735.6:c.5741G>A ENSP00000389907.2:p.Arg1914His
ENST00000471572.6:c.189G>A
ENST00000579081.5:c.6942G>A ENSP00000462408.1:n.6942G>A
ENST00000581790.5:c.64+246G>A
ENST00000584328.1:n.220G>A
ENST00000684826.1:c.1370G>A ENSP00000509994.1:p.Arg457His
ENST00000684998.1:n.2064G>A
ENST00000687027.1:c.962G>A ENSP00000508715.1:p.Arg321His
ENST00000687863.1:n.3451G>A
ENST00000691014.1:c.6836G>A ENSP00000510595.1:p.Arg2279His
ENST00000693617.1:c.1370G>A ENSP00000510031.1:p.Arg457His
ENST00000696138.1:c.6788G>A ENSP00000512431.1:p.Arg2263His
XM_005257983.1:c.6806G>A XP_005258040.1:p.Arg2269His
XM_005257984.1:c.6743G>A XP_005258041.1:p.Arg2248His
XM_006721922.1:c.6836G>A XP_006721985.1:p.Arg2279His
XM_006721923.2:c.6797G>A XP_006721986.1:p.Arg2266His
XM_006721924.1:c.6836G>A XP_006721987.1:p.Arg2279His
XM_006721925.1:c.6773G>A XP_006721988.1:p.Arg2258His
XM_006721926.2:c.6836G>A XP_006721989.1:p.Arg2279His
XM_006721927.1:c.6836G>A XP_006721990.1:p.Arg2279His
XM_011524852.1:c.6833G>A XP_011523154.1:p.Arg2278His
XM_011524853.1:c.6797G>A XP_011523155.1:p.Arg2266His
XM_011524854.1:c.6797G>A XP_011523156.1:p.Arg2266His
XM_011524855.1:c.6797G>A XP_011523157.1:p.Arg2266His
XM_011524856.1:c.6797G>A XP_011523158.1:p.Arg2266His
XM_011524857.1:c.6836G>A XP_011523159.1:p.Arg2279His