Canonical Allele Identifier: CA8487505

Gene: NF1

Linked Data

• ClinVar Variation Id: 571858
• ClinVar RCV Id: RCV000693106
• dbSNP Id: rs751081026
• ExAC: 17:29670134 G / T
• gnomAD v2: 17-29670134-G-T
• gnomAD v4: 17-31343116-G-T
• MyVariant Identifiers: chr17:g.29670134G>T (hg19) ; chr17:g.31343116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343116G>T , CM000679.2:g.31343116G>T	GRCh38
NC_000017.10:g.29670134G>T , CM000679.1:g.29670134G>T	GRCh37
NC_000017.9:g.26694260G>T	NCBI36
NG_009018.1:g.253140G>T , LRG_214:g.253140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7152G>T	ENSP00000512431.1:p.Leu2384Phe
ENST00000684826.1:c.1734G>T	ENSP00000509994.1:p.Leu578Phe
ENST00000687027.1:c.1326G>T	ENSP00000508715.1:p.Leu442Phe
ENST00000687863.1:n.3815G>T
ENST00000689464.1:c.109G>T
ENST00000691014.1:c.7200G>T	ENSP00000510595.1:p.Leu2400Phe
ENST00000693617.1:c.1734G>T	ENSP00000510031.1:p.Leu578Phe
ENST00000358273.9:c.7170G>T MANE Select	ENSP00000351015.4:p.Leu2390Phe
ENST00000356175.7:c.7107G>T	ENSP00000348498.3:p.Leu2369Phe
ENST00000358273.8:c.7170G>T	ENSP00000351015.4:p.Leu2390Phe
ENST00000456735.6:c.6105G>T	ENSP00000389907.2:p.Leu2035Phe
ENST00000471572.6:c.553G>T
ENST00000579081.5:c.7306G>T	ENSP00000462408.1:n.7306G>T
ENST00000581790.5:c.313G>T
ENST00000582892.1:n.412G>T
NM_000267.3:c.7107G>T , LRG_214t1:c.7107G>T	NP_000258.1:p.Leu2369Phe
NM_001042492.2:c.7170G>T , LRG_214t2:c.7170G>T	NP_001035957.1:p.Leu2390Phe
XM_005257983.1:c.7170G>T	XP_005258040.1:p.Leu2390Phe
XM_005257984.1:c.7107G>T	XP_005258041.1:p.Leu2369Phe
XM_006721922.1:c.7200G>T	XP_006721985.1:p.Leu2400Phe
XM_006721923.2:c.7161G>T	XP_006721986.1:p.Leu2387Phe
XM_006721924.1:c.7200G>T	XP_006721987.1:p.Leu2400Phe
XM_006721925.1:c.7137G>T	XP_006721988.1:p.Leu2379Phe
XM_006721926.2:c.7200G>T	XP_006721989.1:p.Leu2400Phe
XM_006721927.1:c.7200G>T	XP_006721990.1:p.Leu2400Phe
XM_011524852.1:c.7197G>T	XP_011523154.1:p.Leu2399Phe
XM_011524853.1:c.7161G>T	XP_011523155.1:p.Leu2387Phe
XM_011524854.1:c.7161G>T	XP_011523156.1:p.Leu2387Phe
XM_011524855.1:c.7161G>T	XP_011523157.1:p.Leu2387Phe
XM_011524856.1:c.7161G>T	XP_011523158.1:p.Leu2387Phe
XM_011524857.1:c.7200G>T	XP_011523159.1:p.Leu2400Phe
NM_001042492.3:c.7170G>T MANE Select	NP_001035957.1:p.Leu2390Phe