Canonical Allele Identifier: CA399013798

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337845C>A , CM000679.2:g.31337845C>A	GRCh38
NC_000017.10:g.29664863C>A , CM000679.1:g.29664863C>A	GRCh37
NC_000017.9:g.26688989C>A	NCBI36
NG_009018.1:g.247869C>A , LRG_214:g.247869C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6669C>A MANE Select	NP_001035957.1:p.Cys2223Ter
ENST00000358273.9:c.6669C>A MANE Select	ENSP00000351015.4:p.Cys2223Ter
NM_000267.3:c.6606C>A , LRG_214t1:c.6606C>A	NP_000258.1:p.Cys2202Ter
NM_001042492.2:c.6669C>A , LRG_214t2:c.6669C>A	NP_001035957.1:p.Cys2223Ter
ENST00000356175.7:c.6606C>A	ENSP00000348498.3:p.Cys2202Ter
ENST00000358273.8:c.6669C>A	ENSP00000351015.4:p.Cys2223Ter
ENST00000456735.6:c.5604C>A	ENSP00000389907.2:p.Cys1868Ter
ENST00000471572.6:c.29C>A
ENST00000579081.5:c.6805C>A	ENSP00000462408.1:n.6805C>A
ENST00000581790.5:c.29C>A
ENST00000584328.1:n.83C>A
ENST00000684826.1:c.1233C>A	ENSP00000509994.1:p.Cys411Ter
ENST00000684998.1:n.1783C>A
ENST00000687027.1:c.825C>A	ENSP00000508715.1:p.Cys275Ter
ENST00000687863.1:n.3314C>A
ENST00000691014.1:c.6699C>A	ENSP00000510595.1:p.Cys2233Ter
ENST00000693617.1:c.1233C>A	ENSP00000510031.1:p.Cys411Ter
ENST00000696138.1:c.6651C>A	ENSP00000512431.1:p.Cys2217Ter
XM_005257983.1:c.6669C>A	XP_005258040.1:p.Cys2223Ter
XM_005257984.1:c.6606C>A	XP_005258041.1:p.Cys2202Ter
XM_006721922.1:c.6699C>A	XP_006721985.1:p.Cys2233Ter
XM_006721923.2:c.6660C>A	XP_006721986.1:p.Cys2220Ter
XM_006721924.1:c.6699C>A	XP_006721987.1:p.Cys2233Ter
XM_006721925.1:c.6636C>A	XP_006721988.1:p.Cys2212Ter
XM_006721926.2:c.6699C>A	XP_006721989.1:p.Cys2233Ter
XM_006721927.1:c.6699C>A	XP_006721990.1:p.Cys2233Ter
XM_011524852.1:c.6696C>A	XP_011523154.1:p.Cys2232Ter
XM_011524853.1:c.6660C>A	XP_011523155.1:p.Cys2220Ter
XM_011524854.1:c.6660C>A	XP_011523156.1:p.Cys2220Ter
XM_011524855.1:c.6660C>A	XP_011523157.1:p.Cys2220Ter
XM_011524856.1:c.6660C>A	XP_011523158.1:p.Cys2220Ter
XM_011524857.1:c.6699C>A	XP_011523159.1:p.Cys2233Ter