Canonical Allele Identifier: CA399003978

Gene: NF1

Linked Data

• dbSNP Id: rs1057523206
• MyVariant Identifiers: chr17:g.29550468A>T (hg19) ; chr17:g.31223450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223450A>T , CM000679.2:g.31223450A>T	GRCh38
NC_000017.10:g.29550468A>T , CM000679.1:g.29550468A>T	GRCh37
NC_000017.9:g.26574594A>T	NCBI36
NG_009018.1:g.133474A>T , LRG_214:g.133474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1773A>T	ENSP00000512431.1:p.Gln591His
ENST00000691014.1:c.1758A>T	ENSP00000510595.1:p.Gln586His
ENST00000358273.9:c.1728A>T MANE Select	ENSP00000351015.4:p.Gln576His
ENST00000356175.7:c.1728A>T	ENSP00000348498.3:p.Gln576His
ENST00000358273.8:c.1728A>T	ENSP00000351015.4:p.Gln576His
ENST00000456735.6:c.726A>T	ENSP00000389907.2:p.Gln242His
ENST00000495910.6:c.1503A>T
ENST00000579081.5:c.1830A>T	ENSP00000462408.1:p.Gln610His
NM_000267.3:c.1728A>T , LRG_214t1:c.1728A>T	NP_000258.1:p.Gln576His
NM_001042492.2:c.1728A>T , LRG_214t2:c.1728A>T	NP_001035957.1:p.Gln576His
XM_005257983.1:c.1728A>T	XP_005258040.1:p.Gln576His
XM_005257984.1:c.1728A>T	XP_005258041.1:p.Gln576His
XM_006721922.1:c.1758A>T	XP_006721985.1:p.Gln586His
XM_006721923.2:c.1719A>T	XP_006721986.1:p.Gln573His
XM_006721924.1:c.1758A>T	XP_006721987.1:p.Gln586His
XM_006721925.1:c.1758A>T	XP_006721988.1:p.Gln586His
XM_006721926.2:c.1758A>T	XP_006721989.1:p.Gln586His
XM_006721927.1:c.1758A>T	XP_006721990.1:p.Gln586His
XM_006721928.2:c.1758A>T	XP_006721991.1:p.Gln586His
XM_011524852.1:c.1758A>T	XP_011523154.1:p.Gln586His
XM_011524853.1:c.1719A>T	XP_011523155.1:p.Gln573His
XM_011524854.1:c.1719A>T	XP_011523156.1:p.Gln573His
XM_011524855.1:c.1719A>T	XP_011523157.1:p.Gln573His
XM_011524856.1:c.1719A>T	XP_011523158.1:p.Gln573His
XM_011524857.1:c.1758A>T	XP_011523159.1:p.Gln586His
NM_001042492.3:c.1728A>T MANE Select	NP_001035957.1:p.Gln576His