Canonical Allele Identifier: CA399015537

Gene: NF1

Linked Data

• ClinVar Variation Id: 578916
• ClinVar RCV Id: RCV000702063
• dbSNP Id: rs1567620390
• COSMIC: COSM977497 ; COSM977498
• MyVariant Identifiers: chr17:g.29670043T>G (hg19) ; chr17:g.31343025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343025T>G , CM000679.2:g.31343025T>G	GRCh38
NC_000017.10:g.29670043T>G , CM000679.1:g.29670043T>G	GRCh37
NC_000017.9:g.26694169T>G	NCBI36
NG_009018.1:g.253049T>G , LRG_214:g.253049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7061T>G	ENSP00000512431.1:p.Phe2354Cys
ENST00000684826.1:c.1643T>G	ENSP00000509994.1:p.Phe548Cys
ENST00000687027.1:c.1235T>G	ENSP00000508715.1:p.Phe412Cys
ENST00000687863.1:n.3724T>G
ENST00000689464.1:c.18T>G
ENST00000691014.1:c.7109T>G	ENSP00000510595.1:p.Phe2370Cys
ENST00000693617.1:c.1643T>G	ENSP00000510031.1:p.Phe548Cys
ENST00000358273.9:c.7079T>G MANE Select	ENSP00000351015.4:p.Phe2360Cys
ENST00000356175.7:c.7016T>G	ENSP00000348498.3:p.Phe2339Cys
ENST00000358273.8:c.7079T>G	ENSP00000351015.4:p.Phe2360Cys
ENST00000456735.6:c.6014T>G	ENSP00000389907.2:p.Phe2005Cys
ENST00000471572.6:c.462T>G
ENST00000579081.5:c.7215T>G	ENSP00000462408.1:n.7215T>G
ENST00000581790.5:c.222T>G
ENST00000582892.1:n.321T>G
ENST00000584328.1:n.493T>G
NM_000267.3:c.7016T>G , LRG_214t1:c.7016T>G	NP_000258.1:p.Phe2339Cys
NM_001042492.2:c.7079T>G , LRG_214t2:c.7079T>G	NP_001035957.1:p.Phe2360Cys
XM_005257983.1:c.7079T>G	XP_005258040.1:p.Phe2360Cys
XM_005257984.1:c.7016T>G	XP_005258041.1:p.Phe2339Cys
XM_006721922.1:c.7109T>G	XP_006721985.1:p.Phe2370Cys
XM_006721923.2:c.7070T>G	XP_006721986.1:p.Phe2357Cys
XM_006721924.1:c.7109T>G	XP_006721987.1:p.Phe2370Cys
XM_006721925.1:c.7046T>G	XP_006721988.1:p.Phe2349Cys
XM_006721926.2:c.7109T>G	XP_006721989.1:p.Phe2370Cys
XM_006721927.1:c.7109T>G	XP_006721990.1:p.Phe2370Cys
XM_011524852.1:c.7106T>G	XP_011523154.1:p.Phe2369Cys
XM_011524853.1:c.7070T>G	XP_011523155.1:p.Phe2357Cys
XM_011524854.1:c.7070T>G	XP_011523156.1:p.Phe2357Cys
XM_011524855.1:c.7070T>G	XP_011523157.1:p.Phe2357Cys
XM_011524856.1:c.7070T>G	XP_011523158.1:p.Phe2357Cys
XM_011524857.1:c.7109T>G	XP_011523159.1:p.Phe2370Cys
NM_001042492.3:c.7079T>G MANE Select	NP_001035957.1:p.Phe2360Cys