Canonical Allele Identifier: CA399010483

Gene: NF1

Linked Data

• dbSNP Id: rs1272030269
• MyVariant Identifiers: chr17:g.29657495A>G (hg19) ; chr17:g.31330477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330477A>G , CM000679.2:g.31330477A>G	GRCh38
NC_000017.10:g.29657495A>G , CM000679.1:g.29657495A>G	GRCh37
NC_000017.9:g.26681621A>G	NCBI36
NG_009018.1:g.240501A>G , LRG_214:g.240501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1979A>G	ENSP00000492721.2:n.1979A>G
ENST00000696138.1:c.5773A>G	ENSP00000512431.1:p.Ile1925Val
ENST00000684826.1:c.355A>G	ENSP00000509994.1:p.Ile119Val
ENST00000687027.1:c.-54A>G	ENSP00000508715.1:n.-54A>G
ENST00000687863.1:n.2436A>G
ENST00000691014.1:c.5821A>G	ENSP00000510595.1:p.Ile1941Val
ENST00000693617.1:c.355A>G	ENSP00000510031.1:p.Ile119Val
ENST00000358273.9:c.5791A>G MANE Select	ENSP00000351015.4:p.Ile1931Val
ENST00000356175.7:c.5728A>G	ENSP00000348498.3:p.Ile1910Val
ENST00000358273.8:c.5791A>G	ENSP00000351015.4:p.Ile1931Val
ENST00000456735.6:c.4726A>G	ENSP00000389907.2:p.Ile1576Val
ENST00000479536.2:c.149A>G
ENST00000493220.5:n.4264A>G
ENST00000579081.5:c.5927A>G	ENSP00000462408.1:n.5927A>G
ENST00000581113.6:n.1108A>G
NM_000267.3:c.5728A>G , LRG_214t1:c.5728A>G	NP_000258.1:p.Ile1910Val
NM_001042492.2:c.5791A>G , LRG_214t2:c.5791A>G	NP_001035957.1:p.Ile1931Val
XM_005257983.1:c.5791A>G	XP_005258040.1:p.Ile1931Val
XM_005257984.1:c.5728A>G	XP_005258041.1:p.Ile1910Val
XM_006721922.1:c.5821A>G	XP_006721985.1:p.Ile1941Val
XM_006721923.2:c.5782A>G	XP_006721986.1:p.Ile1928Val
XM_006721924.1:c.5821A>G	XP_006721987.1:p.Ile1941Val
XM_006721925.1:c.5758A>G	XP_006721988.1:p.Ile1920Val
XM_006721926.2:c.5821A>G	XP_006721989.1:p.Ile1941Val
XM_006721927.1:c.5821A>G	XP_006721990.1:p.Ile1941Val
XM_011524852.1:c.5818A>G	XP_011523154.1:p.Ile1940Val
XM_011524853.1:c.5782A>G	XP_011523155.1:p.Ile1928Val
XM_011524854.1:c.5782A>G	XP_011523156.1:p.Ile1928Val
XM_011524855.1:c.5782A>G	XP_011523157.1:p.Ile1928Val
XM_011524856.1:c.5782A>G	XP_011523158.1:p.Ile1928Val
XM_011524857.1:c.5821A>G	XP_011523159.1:p.Ile1941Val
NM_001042492.3:c.5791A>G MANE Select	NP_001035957.1:p.Ile1931Val