Canonical Allele Identifier: CA399014352

Gene: NF1

Linked Data

• ClinVar Variation Id: 480099
• ClinVar RCV Id: RCV000575548
• dbSNP Id: rs876659722
• MyVariant Identifiers: chr17:g.29665773A>T (hg19) ; chr17:g.31338755A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338755A>T , CM000679.2:g.31338755A>T	GRCh38
NC_000017.10:g.29665773A>T , CM000679.1:g.29665773A>T	GRCh37
NC_000017.9:g.26689899A>T	NCBI36
NG_009018.1:g.248779A>T , LRG_214:g.248779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6853A>T	ENSP00000512431.1:p.Ile2285Leu
ENST00000684826.1:c.1435A>T	ENSP00000509994.1:p.Ile479Leu
ENST00000684998.1:n.2693A>T
ENST00000687027.1:c.1027A>T	ENSP00000508715.1:p.Ile343Leu
ENST00000687863.1:n.3516A>T
ENST00000691014.1:c.6901A>T	ENSP00000510595.1:p.Ile2301Leu
ENST00000693617.1:c.1435A>T	ENSP00000510031.1:p.Ile479Leu
ENST00000358273.9:c.6871A>T MANE Select	ENSP00000351015.4:p.Ile2291Leu
ENST00000356175.7:c.6808A>T	ENSP00000348498.3:p.Ile2270Leu
ENST00000358273.8:c.6871A>T	ENSP00000351015.4:p.Ile2291Leu
ENST00000456735.6:c.5806A>T	ENSP00000389907.2:p.Ile1936Leu
ENST00000471572.6:c.254A>T
ENST00000579081.5:c.7007A>T	ENSP00000462408.1:n.7007A>T
ENST00000581790.5:c.64+875A>T
ENST00000584328.1:n.285A>T
NM_000267.3:c.6808A>T , LRG_214t1:c.6808A>T	NP_000258.1:p.Ile2270Leu
NM_001042492.2:c.6871A>T , LRG_214t2:c.6871A>T	NP_001035957.1:p.Ile2291Leu
XM_005257983.1:c.6871A>T	XP_005258040.1:p.Ile2291Leu
XM_005257984.1:c.6808A>T	XP_005258041.1:p.Ile2270Leu
XM_006721922.1:c.6901A>T	XP_006721985.1:p.Ile2301Leu
XM_006721923.2:c.6862A>T	XP_006721986.1:p.Ile2288Leu
XM_006721924.1:c.6901A>T	XP_006721987.1:p.Ile2301Leu
XM_006721925.1:c.6838A>T	XP_006721988.1:p.Ile2280Leu
XM_006721926.2:c.6901A>T	XP_006721989.1:p.Ile2301Leu
XM_006721927.1:c.6901A>T	XP_006721990.1:p.Ile2301Leu
XM_011524852.1:c.6898A>T	XP_011523154.1:p.Ile2300Leu
XM_011524853.1:c.6862A>T	XP_011523155.1:p.Ile2288Leu
XM_011524854.1:c.6862A>T	XP_011523156.1:p.Ile2288Leu
XM_011524855.1:c.6862A>T	XP_011523157.1:p.Ile2288Leu
XM_011524856.1:c.6862A>T	XP_011523158.1:p.Ile2288Leu
XM_011524857.1:c.6901A>T	XP_011523159.1:p.Ile2301Leu
NM_001042492.3:c.6871A>T MANE Select	NP_001035957.1:p.Ile2291Leu