Canonical Allele Identifier: CA499234154

Gene: NF1

Linked Data

• dbSNP Id: rs2151470179
• COSMIC: COSM5545393 ; COSM5545394
• MyVariant Identifiers: chr17:g.29592301C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265283C>T , CM000679.2:g.31265283C>T	GRCh38
NC_000017.10:g.29592301C>T , CM000679.1:g.29592301C>T	GRCh37
NC_000017.9:g.26616427C>T	NCBI36
NG_009018.1:g.175307C>T , LRG_214:g.175307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.581C>T	ENSP00000492721.2:n.581C>T
ENST00000696138.1:c.4761C>T	ENSP00000512431.1:p.Phe1587=
ENST00000696140.1:n.885C>T
ENST00000696141.1:c.770C>T
ENST00000687863.1:n.1424C>T
ENST00000691014.1:c.4809C>T	ENSP00000510595.1:p.Phe1603=
ENST00000358273.9:c.4779C>T MANE Select	ENSP00000351015.4:p.Phe1593=
ENST00000356175.7:c.4716C>T	ENSP00000348498.3:p.Phe1572=
ENST00000358273.8:c.4779C>T	ENSP00000351015.4:p.Phe1593=
ENST00000456735.6:c.3714C>T	ENSP00000389907.2:p.Phe1238=
ENST00000493220.5:n.3252C>T
ENST00000579081.5:c.4818C>T	ENSP00000462408.1:p.Phe1606=
NM_000267.3:c.4716C>T , LRG_214t1:c.4716C>T	NP_000258.1:p.Phe1572=
NM_001042492.2:c.4779C>T , LRG_214t2:c.4779C>T	NP_001035957.1:p.Phe1593=
XM_005257983.1:c.4779C>T	XP_005258040.1:p.Phe1593=
XM_005257984.1:c.4716C>T	XP_005258041.1:p.Phe1572=
XM_006721922.1:c.4809C>T	XP_006721985.1:p.Phe1603=
XM_006721923.2:c.4770C>T	XP_006721986.1:p.Phe1590=
XM_006721924.1:c.4809C>T	XP_006721987.1:p.Phe1603=
XM_006721925.1:c.4746C>T	XP_006721988.1:p.Phe1582=
XM_006721926.2:c.4809C>T	XP_006721989.1:p.Phe1603=
XM_006721927.1:c.4809C>T	XP_006721990.1:p.Phe1603=
XM_006721928.2:c.4809C>T	XP_006721991.1:p.Phe1603=
XM_011524852.1:c.4806C>T	XP_011523154.1:p.Phe1602=
XM_011524853.1:c.4770C>T	XP_011523155.1:p.Phe1590=
XM_011524854.1:c.4770C>T	XP_011523156.1:p.Phe1590=
XM_011524855.1:c.4770C>T	XP_011523157.1:p.Phe1590=
XM_011524856.1:c.4770C>T	XP_011523158.1:p.Phe1590=
XM_011524857.1:c.4809C>T	XP_011523159.1:p.Phe1603=
NM_001042492.3:c.4779C>T MANE Select	NP_001035957.1:p.Phe1593=