Canonical Allele Identifier: CA399015586

Gene: NF1

Linked Data

• dbSNP Id: rs2151565046
• MyVariant Identifiers: chr17:g.29670066G>T (hg19) ; chr17:g.31343048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343048G>T , CM000679.2:g.31343048G>T	GRCh38
NC_000017.10:g.29670066G>T , CM000679.1:g.29670066G>T	GRCh37
NC_000017.9:g.26694192G>T	NCBI36
NG_009018.1:g.253072G>T , LRG_214:g.253072G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7084G>T	ENSP00000512431.1:p.Glu2362Ter
ENST00000684826.1:c.1666G>T	ENSP00000509994.1:p.Glu556Ter
ENST00000687027.1:c.1258G>T	ENSP00000508715.1:p.Glu420Ter
ENST00000687863.1:n.3747G>T
ENST00000689464.1:c.41G>T
ENST00000691014.1:c.7132G>T	ENSP00000510595.1:p.Glu2378Ter
ENST00000693617.1:c.1666G>T	ENSP00000510031.1:p.Glu556Ter
ENST00000358273.9:c.7102G>T MANE Select	ENSP00000351015.4:p.Glu2368Ter
ENST00000356175.7:c.7039G>T	ENSP00000348498.3:p.Glu2347Ter
ENST00000358273.8:c.7102G>T	ENSP00000351015.4:p.Glu2368Ter
ENST00000456735.6:c.6037G>T	ENSP00000389907.2:p.Glu2013Ter
ENST00000471572.6:c.485G>T
ENST00000579081.5:c.7238G>T	ENSP00000462408.1:n.7238G>T
ENST00000581790.5:c.245G>T
ENST00000582892.1:n.344G>T
ENST00000584328.1:n.516G>T
NM_000267.3:c.7039G>T , LRG_214t1:c.7039G>T	NP_000258.1:p.Glu2347Ter
NM_001042492.2:c.7102G>T , LRG_214t2:c.7102G>T	NP_001035957.1:p.Glu2368Ter
XM_005257983.1:c.7102G>T	XP_005258040.1:p.Glu2368Ter
XM_005257984.1:c.7039G>T	XP_005258041.1:p.Glu2347Ter
XM_006721922.1:c.7132G>T	XP_006721985.1:p.Glu2378Ter
XM_006721923.2:c.7093G>T	XP_006721986.1:p.Glu2365Ter
XM_006721924.1:c.7132G>T	XP_006721987.1:p.Glu2378Ter
XM_006721925.1:c.7069G>T	XP_006721988.1:p.Glu2357Ter
XM_006721926.2:c.7132G>T	XP_006721989.1:p.Glu2378Ter
XM_006721927.1:c.7132G>T	XP_006721990.1:p.Glu2378Ter
XM_011524852.1:c.7129G>T	XP_011523154.1:p.Glu2377Ter
XM_011524853.1:c.7093G>T	XP_011523155.1:p.Glu2365Ter
XM_011524854.1:c.7093G>T	XP_011523156.1:p.Glu2365Ter
XM_011524855.1:c.7093G>T	XP_011523157.1:p.Glu2365Ter
XM_011524856.1:c.7093G>T	XP_011523158.1:p.Glu2365Ter
XM_011524857.1:c.7132G>T	XP_011523159.1:p.Glu2378Ter
NM_001042492.3:c.7102G>T MANE Select	NP_001035957.1:p.Glu2368Ter