Canonical Allele Identifier: CA8487563

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31350210G>A , CM000679.2:g.31350210G>A	GRCh38
NC_000017.10:g.29677228G>A , CM000679.1:g.29677228G>A	GRCh37
NC_000017.9:g.26701354G>A	NCBI36
NG_009018.1:g.260234G>A , LRG_214:g.260234G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7349G>A MANE Select	NP_001035957.1:p.Arg2450Gln
ENST00000358273.9:c.7349G>A MANE Select	ENSP00000351015.4:p.Arg2450Gln
NM_000267.3:c.7286G>A , LRG_214t1:c.7286G>A	NP_000258.1:p.Arg2429Gln
NM_001042492.2:c.7349G>A , LRG_214t2:c.7349G>A	NP_001035957.1:p.Arg2450Gln
ENST00000356175.7:c.7286G>A	ENSP00000348498.3:p.Arg2429Gln
ENST00000358273.8:c.7349G>A	ENSP00000351015.4:p.Arg2450Gln
ENST00000456735.6:c.6284G>A	ENSP00000389907.2:p.Arg2095Gln
ENST00000471572.6:c.732G>A
ENST00000579081.5:c.7485G>A	ENSP00000462408.1:n.7485G>A
ENST00000581790.5:c.492G>A
ENST00000684826.1:c.1913G>A	ENSP00000509994.1:p.Arg638Gln
ENST00000687027.1:c.1505G>A	ENSP00000508715.1:p.Arg502Gln
ENST00000687863.1:n.3994G>A
ENST00000689464.1:c.399G>A
ENST00000691014.1:c.7379G>A	ENSP00000510595.1:p.Arg2460Gln
ENST00000693617.1:c.1913G>A	ENSP00000510031.1:p.Arg638Gln
ENST00000696138.1:c.7331G>A	ENSP00000512431.1:p.Arg2444Gln
XM_005257983.1:c.7349G>A	XP_005258040.1:p.Arg2450Gln
XM_005257984.1:c.7286G>A	XP_005258041.1:p.Arg2429Gln
XM_006721922.1:c.7379G>A	XP_006721985.1:p.Arg2460Gln
XM_006721923.2:c.7340G>A	XP_006721986.1:p.Arg2447Gln
XM_006721924.1:c.7379G>A	XP_006721987.1:p.Arg2460Gln
XM_006721925.1:c.7316G>A	XP_006721988.1:p.Arg2439Gln
XM_006721926.2:c.7379G>A	XP_006721989.1:p.Arg2460Gln
XM_006721927.1:c.7379G>A	XP_006721990.1:p.Arg2460Gln
XM_011524852.1:c.7376G>A	XP_011523154.1:p.Arg2459Gln
XM_011524853.1:c.7340G>A	XP_011523155.1:p.Arg2447Gln
XM_011524854.1:c.7340G>A	XP_011523156.1:p.Arg2447Gln
XM_011524855.1:c.7340G>A	XP_011523157.1:p.Arg2447Gln
XM_011524856.1:c.7340G>A	XP_011523158.1:p.Arg2447Gln
XM_011524857.1:c.7379G>A	XP_011523159.1:p.Arg2460Gln