Canonical Allele Identifier: CA499234249

Gene: NF1

Linked Data

• dbSNP Id: rs2151558050
• MyVariant Identifiers: chr17:g.29665049A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338031A>T , CM000679.2:g.31338031A>T	GRCh38
NC_000017.10:g.29665049A>T , CM000679.1:g.29665049A>T	GRCh37
NC_000017.9:g.26689175A>T	NCBI36
NG_009018.1:g.248055A>T , LRG_214:g.248055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6693A>T	ENSP00000512431.1:p.Ala2231=
ENST00000684826.1:c.1275A>T	ENSP00000509994.1:p.Ala425=
ENST00000684998.1:n.1969A>T
ENST00000687027.1:c.867A>T	ENSP00000508715.1:p.Ala289=
ENST00000687863.1:n.3356A>T
ENST00000691014.1:c.6741A>T	ENSP00000510595.1:p.Ala2247=
ENST00000693617.1:c.1275A>T	ENSP00000510031.1:p.Ala425=
ENST00000358273.9:c.6711A>T MANE Select	ENSP00000351015.4:p.Ala2237=
ENST00000356175.7:c.6648A>T	ENSP00000348498.3:p.Ala2216=
ENST00000358273.8:c.6711A>T	ENSP00000351015.4:p.Ala2237=
ENST00000456735.6:c.5646A>T	ENSP00000389907.2:p.Ala1882=
ENST00000471572.6:c.94A>T
ENST00000579081.5:c.6847A>T	ENSP00000462408.1:n.6847A>T
ENST00000581790.5:c.64+151A>T
ENST00000584328.1:n.125A>T
NM_000267.3:c.6648A>T , LRG_214t1:c.6648A>T	NP_000258.1:p.Ala2216=
NM_001042492.2:c.6711A>T , LRG_214t2:c.6711A>T	NP_001035957.1:p.Ala2237=
XM_005257983.1:c.6711A>T	XP_005258040.1:p.Ala2237=
XM_005257984.1:c.6648A>T	XP_005258041.1:p.Ala2216=
XM_006721922.1:c.6741A>T	XP_006721985.1:p.Ala2247=
XM_006721923.2:c.6702A>T	XP_006721986.1:p.Ala2234=
XM_006721924.1:c.6741A>T	XP_006721987.1:p.Ala2247=
XM_006721925.1:c.6678A>T	XP_006721988.1:p.Ala2226=
XM_006721926.2:c.6741A>T	XP_006721989.1:p.Ala2247=
XM_006721927.1:c.6741A>T	XP_006721990.1:p.Ala2247=
XM_011524852.1:c.6738A>T	XP_011523154.1:p.Ala2246=
XM_011524853.1:c.6702A>T	XP_011523155.1:p.Ala2234=
XM_011524854.1:c.6702A>T	XP_011523156.1:p.Ala2234=
XM_011524855.1:c.6702A>T	XP_011523157.1:p.Ala2234=
XM_011524856.1:c.6702A>T	XP_011523158.1:p.Ala2234=
XM_011524857.1:c.6741A>T	XP_011523159.1:p.Ala2247=
NM_001042492.3:c.6711A>T MANE Select	NP_001035957.1:p.Ala2237=