Canonical Allele Identifier: CA499443877

Gene: NF1

Linked Data

• dbSNP Id: rs2151435795
• MyVariant Identifiers: chr17:g.29560216T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233198T>A , CM000679.2:g.31233198T>A	GRCh38
NC_000017.10:g.29560216T>A , CM000679.1:g.29560216T>A	GRCh37
NC_000017.9:g.26584342T>A	NCBI36
NG_009018.1:g.143222T>A , LRG_214:g.143222T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3738T>A	ENSP00000512431.1:p.Val1246=
ENST00000696139.1:c.1038T>A	ENSP00000512432.1:p.Val346=
ENST00000691014.1:c.3723T>A	ENSP00000510595.1:p.Val1241=
ENST00000693210.1:n.419T>A
ENST00000358273.9:c.3693T>A MANE Select	ENSP00000351015.4:p.Val1231=
ENST00000356175.7:c.3693T>A	ENSP00000348498.3:p.Val1231=
ENST00000358273.8:c.3693T>A	ENSP00000351015.4:p.Val1231=
ENST00000456735.6:c.2691T>A	ENSP00000389907.2:p.Val897=
ENST00000466819.5:c.169T>A
ENST00000479614.1:c.169T>A
ENST00000493220.5:n.2229T>A
ENST00000495910.6:c.3468T>A
ENST00000579081.5:c.3795T>A	ENSP00000462408.1:p.Val1265=
NM_000267.3:c.3693T>A , LRG_214t1:c.3693T>A	NP_000258.1:p.Val1231=
NM_001042492.2:c.3693T>A , LRG_214t2:c.3693T>A	NP_001035957.1:p.Val1231=
XM_005257983.1:c.3693T>A	XP_005258040.1:p.Val1231=
XM_005257984.1:c.3693T>A	XP_005258041.1:p.Val1231=
XM_006721922.1:c.3723T>A	XP_006721985.1:p.Val1241=
XM_006721923.2:c.3684T>A	XP_006721986.1:p.Val1228=
XM_006721924.1:c.3723T>A	XP_006721987.1:p.Val1241=
XM_006721925.1:c.3723T>A	XP_006721988.1:p.Val1241=
XM_006721926.2:c.3723T>A	XP_006721989.1:p.Val1241=
XM_006721927.1:c.3723T>A	XP_006721990.1:p.Val1241=
XM_006721928.2:c.3723T>A	XP_006721991.1:p.Val1241=
XM_011524852.1:c.3720T>A	XP_011523154.1:p.Val1240=
XM_011524853.1:c.3684T>A	XP_011523155.1:p.Val1228=
XM_011524854.1:c.3684T>A	XP_011523156.1:p.Val1228=
XM_011524855.1:c.3684T>A	XP_011523157.1:p.Val1228=
XM_011524856.1:c.3684T>A	XP_011523158.1:p.Val1228=
XM_011524857.1:c.3723T>A	XP_011523159.1:p.Val1241=
NM_001042492.3:c.3693T>A MANE Select	NP_001035957.1:p.Val1231=