Canonical Allele Identifier: CA499443866

Gene: NF1

Linked Data

• dbSNP Id: rs200276071
• MyVariant Identifiers: chr17:g.29560207C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233189C>A , CM000679.2:g.31233189C>A	GRCh38
NC_000017.10:g.29560207C>A , CM000679.1:g.29560207C>A	GRCh37
NC_000017.9:g.26584333C>A	NCBI36
NG_009018.1:g.143213C>A , LRG_214:g.143213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3729C>A	ENSP00000512431.1:p.Ala1243=
ENST00000696139.1:c.1029C>A	ENSP00000512432.1:p.Ala343=
ENST00000691014.1:c.3714C>A	ENSP00000510595.1:p.Ala1238=
ENST00000693210.1:n.410C>A
ENST00000358273.9:c.3684C>A MANE Select	ENSP00000351015.4:p.Ala1228=
ENST00000356175.7:c.3684C>A	ENSP00000348498.3:p.Ala1228=
ENST00000358273.8:c.3684C>A	ENSP00000351015.4:p.Ala1228=
ENST00000456735.6:c.2682C>A	ENSP00000389907.2:p.Ala894=
ENST00000466819.5:c.160C>A
ENST00000479614.1:c.160C>A
ENST00000493220.5:n.2220C>A
ENST00000495910.6:c.3459C>A
ENST00000579081.5:c.3786C>A	ENSP00000462408.1:p.Ala1262=
NM_000267.3:c.3684C>A , LRG_214t1:c.3684C>A	NP_000258.1:p.Ala1228=
NM_001042492.2:c.3684C>A , LRG_214t2:c.3684C>A	NP_001035957.1:p.Ala1228=
XM_005257983.1:c.3684C>A	XP_005258040.1:p.Ala1228=
XM_005257984.1:c.3684C>A	XP_005258041.1:p.Ala1228=
XM_006721922.1:c.3714C>A	XP_006721985.1:p.Ala1238=
XM_006721923.2:c.3675C>A	XP_006721986.1:p.Ala1225=
XM_006721924.1:c.3714C>A	XP_006721987.1:p.Ala1238=
XM_006721925.1:c.3714C>A	XP_006721988.1:p.Ala1238=
XM_006721926.2:c.3714C>A	XP_006721989.1:p.Ala1238=
XM_006721927.1:c.3714C>A	XP_006721990.1:p.Ala1238=
XM_006721928.2:c.3714C>A	XP_006721991.1:p.Ala1238=
XM_011524852.1:c.3711C>A	XP_011523154.1:p.Ala1237=
XM_011524853.1:c.3675C>A	XP_011523155.1:p.Ala1225=
XM_011524854.1:c.3675C>A	XP_011523156.1:p.Ala1225=
XM_011524855.1:c.3675C>A	XP_011523157.1:p.Ala1225=
XM_011524856.1:c.3675C>A	XP_011523158.1:p.Ala1225=
XM_011524857.1:c.3714C>A	XP_011523159.1:p.Ala1238=
NM_001042492.3:c.3684C>A MANE Select	NP_001035957.1:p.Ala1228=