Canonical Allele Identifier: CA499236818

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670056G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343038G>T , CM000679.2:g.31343038G>T	GRCh38
NC_000017.10:g.29670056G>T , CM000679.1:g.29670056G>T	GRCh37
NC_000017.9:g.26694182G>T	NCBI36
NG_009018.1:g.253062G>T , LRG_214:g.253062G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7074G>T	ENSP00000512431.1:p.Arg2358=
ENST00000684826.1:c.1656G>T	ENSP00000509994.1:p.Arg552=
ENST00000687027.1:c.1248G>T	ENSP00000508715.1:p.Arg416=
ENST00000687863.1:n.3737G>T
ENST00000689464.1:c.31G>T
ENST00000691014.1:c.7122G>T	ENSP00000510595.1:p.Arg2374=
ENST00000693617.1:c.1656G>T	ENSP00000510031.1:p.Arg552=
ENST00000358273.9:c.7092G>T MANE Select	ENSP00000351015.4:p.Arg2364=
ENST00000356175.7:c.7029G>T	ENSP00000348498.3:p.Arg2343=
ENST00000358273.8:c.7092G>T	ENSP00000351015.4:p.Arg2364=
ENST00000456735.6:c.6027G>T	ENSP00000389907.2:p.Arg2009=
ENST00000471572.6:c.475G>T
ENST00000579081.5:c.7228G>T	ENSP00000462408.1:n.7228G>T
ENST00000581790.5:c.235G>T
ENST00000582892.1:n.334G>T
ENST00000584328.1:n.506G>T
NM_000267.3:c.7029G>T , LRG_214t1:c.7029G>T	NP_000258.1:p.Arg2343=
NM_001042492.2:c.7092G>T , LRG_214t2:c.7092G>T	NP_001035957.1:p.Arg2364=
XM_005257983.1:c.7092G>T	XP_005258040.1:p.Arg2364=
XM_005257984.1:c.7029G>T	XP_005258041.1:p.Arg2343=
XM_006721922.1:c.7122G>T	XP_006721985.1:p.Arg2374=
XM_006721923.2:c.7083G>T	XP_006721986.1:p.Arg2361=
XM_006721924.1:c.7122G>T	XP_006721987.1:p.Arg2374=
XM_006721925.1:c.7059G>T	XP_006721988.1:p.Arg2353=
XM_006721926.2:c.7122G>T	XP_006721989.1:p.Arg2374=
XM_006721927.1:c.7122G>T	XP_006721990.1:p.Arg2374=
XM_011524852.1:c.7119G>T	XP_011523154.1:p.Arg2373=
XM_011524853.1:c.7083G>T	XP_011523155.1:p.Arg2361=
XM_011524854.1:c.7083G>T	XP_011523156.1:p.Arg2361=
XM_011524855.1:c.7083G>T	XP_011523157.1:p.Arg2361=
XM_011524856.1:c.7083G>T	XP_011523158.1:p.Arg2361=
XM_011524857.1:c.7122G>T	XP_011523159.1:p.Arg2374=
NM_001042492.3:c.7092G>T MANE Select	NP_001035957.1:p.Arg2364=