Canonical Allele Identifier: CA399017900

Gene: NF1

Linked Data

• ClinVar Variation Id: 1759493
• ClinVar RCV Id: RCV002393993 ; RCV003495293
• dbSNP Id: rs2151577458
• MyVariant Identifiers: chr17:g.29679432G>T (hg19) ; chr17:g.31352414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352414G>T , CM000679.2:g.31352414G>T	GRCh38
NC_000017.10:g.29679432G>T , CM000679.1:g.29679432G>T	GRCh37
NC_000017.9:g.26703558G>T	NCBI36
NG_009018.1:g.262438G>T , LRG_214:g.262438G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7597G>T	ENSP00000512431.1:p.Gly2533Ter
ENST00000684826.1:c.2179G>T	ENSP00000509994.1:p.Gly727Ter
ENST00000687027.1:c.1771G>T	ENSP00000508715.1:p.Gly591Ter
ENST00000687863.1:n.4260G>T
ENST00000689464.1:c.665G>T
ENST00000691014.1:c.7645G>T	ENSP00000510595.1:p.Gly2549Ter
ENST00000693617.1:c.2179G>T	ENSP00000510031.1:p.Gly727Ter
ENST00000358273.9:c.7615G>T MANE Select	ENSP00000351015.4:p.Gly2539Ter
ENST00000356175.7:c.7552G>T	ENSP00000348498.3:p.Gly2518Ter
ENST00000358273.8:c.7615G>T	ENSP00000351015.4:p.Gly2539Ter
ENST00000456735.6:c.6550G>T	ENSP00000389907.2:p.Gly2184Ter
ENST00000471572.6:c.998G>T
ENST00000579081.5:c.7751G>T	ENSP00000462408.1:n.7751G>T
ENST00000581790.5:c.600+2096G>T
NM_000267.3:c.7552G>T , LRG_214t1:c.7552G>T	NP_000258.1:p.Gly2518Ter
NM_001042492.2:c.7615G>T , LRG_214t2:c.7615G>T	NP_001035957.1:p.Gly2539Ter
XM_005257983.1:c.7615G>T	XP_005258040.1:p.Gly2539Ter
XM_005257984.1:c.7552G>T	XP_005258041.1:p.Gly2518Ter
XM_006721922.1:c.7645G>T	XP_006721985.1:p.Gly2549Ter
XM_006721923.2:c.7606G>T	XP_006721986.1:p.Gly2536Ter
XM_006721924.1:c.7645G>T	XP_006721987.1:p.Gly2549Ter
XM_006721925.1:c.7582G>T	XP_006721988.1:p.Gly2528Ter
XM_006721926.2:c.7645G>T	XP_006721989.1:p.Gly2549Ter
XM_006721927.1:c.7645G>T	XP_006721990.1:p.Gly2549Ter
XM_011524852.1:c.7642G>T	XP_011523154.1:p.Gly2548Ter
XM_011524853.1:c.7606G>T	XP_011523155.1:p.Gly2536Ter
XM_011524854.1:c.7606G>T	XP_011523156.1:p.Gly2536Ter
XM_011524855.1:c.7606G>T	XP_011523157.1:p.Gly2536Ter
XM_011524856.1:c.7606G>T	XP_011523158.1:p.Gly2536Ter
XM_011524857.1:c.7645G>T	XP_011523159.1:p.Glu2549Ter
NM_001042492.3:c.7615G>T MANE Select	NP_001035957.1:p.Gly2539Ter