Canonical Allele Identifier: CA167065

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31356988G>C , CM000679.2:g.31356988G>C	GRCh38
NC_000017.10:g.29684006G>C , CM000679.1:g.29684006G>C	GRCh37
NC_000017.9:g.26708132G>C	NCBI36
NG_009018.1:g.267012G>C , LRG_214:g.267012G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7767G>C MANE Select	NP_001035957.1:p.Gln2589His
ENST00000358273.9:c.7767G>C MANE Select	ENSP00000351015.4:p.Gln2589His
NM_000267.3:c.7704G>C , LRG_214t1:c.7704G>C	NP_000258.1:p.Gln2568His
NM_001042492.2:c.7767G>C , LRG_214t2:c.7767G>C	NP_001035957.1:p.Gln2589His
ENST00000356175.7:c.7704G>C	ENSP00000348498.3:p.Gln2568His
ENST00000358273.8:c.7767G>C	ENSP00000351015.4:p.Gln2589His
ENST00000456735.6:c.6702G>C	ENSP00000389907.2:p.Gln2234His
ENST00000471572.6:c.1150G>C
ENST00000577967.1:n.1185G>C
ENST00000579081.5:c.7903G>C	ENSP00000462408.1:n.7903G>C
ENST00000581790.5:c.752G>C
ENST00000684826.1:c.2331G>C	ENSP00000509994.1:p.Gln777His
ENST00000687027.1:c.1923G>C	ENSP00000508715.1:p.Gln641His
ENST00000687863.1:n.4412G>C
ENST00000689464.1:c.817G>C
ENST00000691014.1:c.7797G>C	ENSP00000510595.1:p.Gln2599His
ENST00000693617.1:c.2331G>C	ENSP00000510031.1:p.Gln777His
ENST00000696138.1:c.7749G>C	ENSP00000512431.1:p.Gln2583His
XM_005257983.1:c.7767G>C	XP_005258040.1:p.Gln2589His
XM_005257984.1:c.7704G>C	XP_005258041.1:p.Gln2568His
XM_006721922.1:c.7797G>C	XP_006721985.1:p.Gln2599His
XM_006721923.2:c.7758G>C	XP_006721986.1:p.Gln2586His
XM_006721924.1:c.7797G>C	XP_006721987.1:p.Gln2599His
XM_006721925.1:c.7734G>C	XP_006721988.1:p.Gln2578His
XM_006721926.2:c.7797G>C	XP_006721989.1:p.Gln2599His
XM_006721927.1:c.7797G>C	XP_006721990.1:p.Gln2599His
XM_011524852.1:c.7794G>C	XP_011523154.1:p.Gln2598His
XM_011524853.1:c.7758G>C	XP_011523155.1:p.Gln2586His
XM_011524854.1:c.7758G>C	XP_011523156.1:p.Gln2586His
XM_011524855.1:c.7758G>C	XP_011523157.1:p.Gln2586His
XM_011524856.1:c.7758G>C	XP_011523158.1:p.Gln2586His
XM_011524857.1:c.7674G>C	XP_011523159.1:p.Gln2558His