Canonical Allele Identifier: CA399203437

Gene: NF1

Linked Data

• dbSNP Id: rs2151583269
• MyVariant Identifiers: chr17:g.29684325A>T (hg19) ; chr17:g.31357307A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357307A>T , CM000679.2:g.31357307A>T	GRCh38
NC_000017.10:g.29684325A>T , CM000679.1:g.29684325A>T	GRCh37
NC_000017.9:g.26708451A>T	NCBI36
NG_009018.1:g.267331A>T , LRG_214:g.267331A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7890A>T	ENSP00000512431.1:p.Gln2630His
ENST00000684826.1:c.2472A>T	ENSP00000509994.1:p.Gln824His
ENST00000687027.1:c.2064A>T	ENSP00000508715.1:p.Gln688His
ENST00000687863.1:n.4553A>T
ENST00000689464.1:c.958A>T
ENST00000691014.1:c.7938A>T	ENSP00000510595.1:p.Gln2646His
ENST00000693617.1:c.2472A>T	ENSP00000510031.1:p.Gln824His
ENST00000358273.9:c.7908A>T MANE Select	ENSP00000351015.4:p.Gln2636His
ENST00000356175.7:c.7845A>T	ENSP00000348498.3:p.Gln2615His
ENST00000358273.8:c.7908A>T	ENSP00000351015.4:p.Gln2636His
ENST00000456735.6:c.6843A>T	ENSP00000389907.2:p.Gln2281His
ENST00000471572.6:c.1291A>T
ENST00000577967.1:n.1504A>T
ENST00000579081.5:c.8044A>T	ENSP00000462408.1:n.8044A>T
ENST00000581790.5:c.893A>T
NM_000267.3:c.7845A>T , LRG_214t1:c.7845A>T	NP_000258.1:p.Gln2615His
NM_001042492.2:c.7908A>T , LRG_214t2:c.7908A>T	NP_001035957.1:p.Gln2636His
XM_005257983.1:c.7908A>T	XP_005258040.1:p.Gln2636His
XM_005257984.1:c.7845A>T	XP_005258041.1:p.Gln2615His
XM_006721922.1:c.7938A>T	XP_006721985.1:p.Gln2646His
XM_006721923.2:c.7899A>T	XP_006721986.1:p.Gln2633His
XM_006721924.1:c.7938A>T	XP_006721987.1:p.Gln2646His
XM_006721925.1:c.7875A>T	XP_006721988.1:p.Gln2625His
XM_006721926.2:c.7938A>T	XP_006721989.1:p.Gln2646His
XM_006721927.1:c.7938A>T	XP_006721990.1:p.Gln2646His
XM_011524852.1:c.7935A>T	XP_011523154.1:p.Gln2645His
XM_011524853.1:c.7899A>T	XP_011523155.1:p.Gln2633His
XM_011524854.1:c.7899A>T	XP_011523156.1:p.Gln2633His
XM_011524855.1:c.7899A>T	XP_011523157.1:p.Gln2633His
XM_011524856.1:c.7899A>T	XP_011523158.1:p.Gln2633His
XM_011524857.1:c.7815A>T	XP_011523159.1:p.Gln2605His
NM_001042492.3:c.7908A>T MANE Select	NP_001035957.1:p.Gln2636His