Canonical Allele Identifier: CA8487566

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31350263A>G , CM000679.2:g.31350263A>G	GRCh38
NC_000017.10:g.29677281A>G , CM000679.1:g.29677281A>G	GRCh37
NC_000017.9:g.26701407A>G	NCBI36
NG_009018.1:g.260287A>G , LRG_214:g.260287A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7402A>G MANE Select	NP_001035957.1:p.Met2468Val
ENST00000358273.9:c.7402A>G MANE Select	ENSP00000351015.4:p.Met2468Val
NM_000267.3:c.7339A>G , LRG_214t1:c.7339A>G	NP_000258.1:p.Met2447Val
NM_001042492.2:c.7402A>G , LRG_214t2:c.7402A>G	NP_001035957.1:p.Met2468Val
ENST00000356175.7:c.7339A>G	ENSP00000348498.3:p.Met2447Val
ENST00000358273.8:c.7402A>G	ENSP00000351015.4:p.Met2468Val
ENST00000456735.6:c.6337A>G	ENSP00000389907.2:p.Met2113Val
ENST00000471572.6:c.785A>G
ENST00000579081.5:c.7538A>G	ENSP00000462408.1:n.7538A>G
ENST00000581790.5:c.545A>G
ENST00000684826.1:c.1966A>G	ENSP00000509994.1:p.Met656Val
ENST00000687027.1:c.1558A>G	ENSP00000508715.1:p.Met520Val
ENST00000687863.1:n.4047A>G
ENST00000689464.1:c.452A>G
ENST00000691014.1:c.7432A>G	ENSP00000510595.1:p.Met2478Val
ENST00000693617.1:c.1966A>G	ENSP00000510031.1:p.Met656Val
ENST00000696138.1:c.7384A>G	ENSP00000512431.1:p.Met2462Val
XM_005257983.1:c.7402A>G	XP_005258040.1:p.Met2468Val
XM_005257984.1:c.7339A>G	XP_005258041.1:p.Met2447Val
XM_006721922.1:c.7432A>G	XP_006721985.1:p.Met2478Val
XM_006721923.2:c.7393A>G	XP_006721986.1:p.Met2465Val
XM_006721924.1:c.7432A>G	XP_006721987.1:p.Met2478Val
XM_006721925.1:c.7369A>G	XP_006721988.1:p.Met2457Val
XM_006721926.2:c.7432A>G	XP_006721989.1:p.Met2478Val
XM_006721927.1:c.7432A>G	XP_006721990.1:p.Met2478Val
XM_011524852.1:c.7429A>G	XP_011523154.1:p.Met2477Val
XM_011524853.1:c.7393A>G	XP_011523155.1:p.Met2465Val
XM_011524854.1:c.7393A>G	XP_011523156.1:p.Met2465Val
XM_011524855.1:c.7393A>G	XP_011523157.1:p.Met2465Val
XM_011524856.1:c.7393A>G	XP_011523158.1:p.Met2465Val
XM_011524857.1:c.7432A>G	XP_011523159.1:p.Met2478Val