Canonical Allele Identifier: CA399015561

Gene: NF1

Linked Data

• ClinVar Variation Id: 648933
• ClinVar RCV Id: RCV000803764 ; RCV001759534 ; RCV002360962 ; RCV002495088
• dbSNP Id: rs1567620403
• gnomAD v4: 17-31343036-C-T
• MyVariant Identifiers: chr17:g.29670054C>T (hg19) ; chr17:g.31343036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343036C>T , CM000679.2:g.31343036C>T	GRCh38
NC_000017.10:g.29670054C>T , CM000679.1:g.29670054C>T	GRCh37
NC_000017.9:g.26694180C>T	NCBI36
NG_009018.1:g.253060C>T , LRG_214:g.253060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7072C>T	ENSP00000512431.1:p.Arg2358Trp
ENST00000684826.1:c.1654C>T	ENSP00000509994.1:p.Arg552Trp
ENST00000687027.1:c.1246C>T	ENSP00000508715.1:p.Arg416Trp
ENST00000687863.1:n.3735C>T
ENST00000689464.1:c.29C>T
ENST00000691014.1:c.7120C>T	ENSP00000510595.1:p.Arg2374Trp
ENST00000693617.1:c.1654C>T	ENSP00000510031.1:p.Arg552Trp
ENST00000358273.9:c.7090C>T MANE Select	ENSP00000351015.4:p.Arg2364Trp
ENST00000356175.7:c.7027C>T	ENSP00000348498.3:p.Arg2343Trp
ENST00000358273.8:c.7090C>T	ENSP00000351015.4:p.Arg2364Trp
ENST00000456735.6:c.6025C>T	ENSP00000389907.2:p.Arg2009Trp
ENST00000471572.6:c.473C>T
ENST00000579081.5:c.7226C>T	ENSP00000462408.1:n.7226C>T
ENST00000581790.5:c.233C>T
ENST00000582892.1:n.332C>T
ENST00000584328.1:n.504C>T
NM_000267.3:c.7027C>T , LRG_214t1:c.7027C>T	NP_000258.1:p.Arg2343Trp
NM_001042492.2:c.7090C>T , LRG_214t2:c.7090C>T	NP_001035957.1:p.Arg2364Trp
XM_005257983.1:c.7090C>T	XP_005258040.1:p.Arg2364Trp
XM_005257984.1:c.7027C>T	XP_005258041.1:p.Arg2343Trp
XM_006721922.1:c.7120C>T	XP_006721985.1:p.Arg2374Trp
XM_006721923.2:c.7081C>T	XP_006721986.1:p.Arg2361Trp
XM_006721924.1:c.7120C>T	XP_006721987.1:p.Arg2374Trp
XM_006721925.1:c.7057C>T	XP_006721988.1:p.Arg2353Trp
XM_006721926.2:c.7120C>T	XP_006721989.1:p.Arg2374Trp
XM_006721927.1:c.7120C>T	XP_006721990.1:p.Arg2374Trp
XM_011524852.1:c.7117C>T	XP_011523154.1:p.Arg2373Trp
XM_011524853.1:c.7081C>T	XP_011523155.1:p.Arg2361Trp
XM_011524854.1:c.7081C>T	XP_011523156.1:p.Arg2361Trp
XM_011524855.1:c.7081C>T	XP_011523157.1:p.Arg2361Trp
XM_011524856.1:c.7081C>T	XP_011523158.1:p.Arg2361Trp
XM_011524857.1:c.7120C>T	XP_011523159.1:p.Arg2374Trp
NM_001042492.3:c.7090C>T MANE Select	NP_001035957.1:p.Arg2364Trp