Canonical Allele Identifier: CA399001294

Gene: NF1

Linked Data

• dbSNP Id: rs1567865042
• MyVariant Identifiers: chr17:g.29592309C>T (hg19) ; chr17:g.31265291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265291C>T , CM000679.2:g.31265291C>T	GRCh38
NC_000017.10:g.29592309C>T , CM000679.1:g.29592309C>T	GRCh37
NC_000017.9:g.26616435C>T	NCBI36
NG_009018.1:g.175315C>T , LRG_214:g.175315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.589C>T	ENSP00000492721.2:n.589C>T
ENST00000696138.1:c.4769C>T	ENSP00000512431.1:p.Ala1590Val
ENST00000696140.1:n.893C>T
ENST00000696141.1:c.778C>T
ENST00000687863.1:n.1432C>T
ENST00000691014.1:c.4817C>T	ENSP00000510595.1:p.Ala1606Val
ENST00000358273.9:c.4787C>T MANE Select	ENSP00000351015.4:p.Ala1596Val
ENST00000356175.7:c.4724C>T	ENSP00000348498.3:p.Ala1575Val
ENST00000358273.8:c.4787C>T	ENSP00000351015.4:p.Ala1596Val
ENST00000456735.6:c.3722C>T	ENSP00000389907.2:p.Ala1241Val
ENST00000493220.5:n.3260C>T
ENST00000579081.5:c.4826C>T	ENSP00000462408.1:p.Ala1609Val
NM_000267.3:c.4724C>T , LRG_214t1:c.4724C>T	NP_000258.1:p.Ala1575Val
NM_001042492.2:c.4787C>T , LRG_214t2:c.4787C>T	NP_001035957.1:p.Ala1596Val
XM_005257983.1:c.4787C>T	XP_005258040.1:p.Ala1596Val
XM_005257984.1:c.4724C>T	XP_005258041.1:p.Ala1575Val
XM_006721922.1:c.4817C>T	XP_006721985.1:p.Ala1606Val
XM_006721923.2:c.4778C>T	XP_006721986.1:p.Ala1593Val
XM_006721924.1:c.4817C>T	XP_006721987.1:p.Ala1606Val
XM_006721925.1:c.4754C>T	XP_006721988.1:p.Ala1585Val
XM_006721926.2:c.4817C>T	XP_006721989.1:p.Ala1606Val
XM_006721927.1:c.4817C>T	XP_006721990.1:p.Ala1606Val
XM_006721928.2:c.4817C>T	XP_006721991.1:p.Ala1606Val
XM_011524852.1:c.4814C>T	XP_011523154.1:p.Ala1605Val
XM_011524853.1:c.4778C>T	XP_011523155.1:p.Ala1593Val
XM_011524854.1:c.4778C>T	XP_011523156.1:p.Ala1593Val
XM_011524855.1:c.4778C>T	XP_011523157.1:p.Ala1593Val
XM_011524856.1:c.4778C>T	XP_011523158.1:p.Ala1593Val
XM_011524857.1:c.4817C>T	XP_011523159.1:p.Ala1606Val
NM_001042492.3:c.4787C>T MANE Select	NP_001035957.1:p.Ala1596Val