Canonical Allele Identifier: CA399014322

Gene: NF1

Linked Data

• dbSNP Id: rs2151559211
• MyVariant Identifiers: chr17:g.29665759A>T (hg19) ; chr17:g.31338741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338741A>T , CM000679.2:g.31338741A>T	GRCh38
NC_000017.10:g.29665759A>T , CM000679.1:g.29665759A>T	GRCh37
NC_000017.9:g.26689885A>T	NCBI36
NG_009018.1:g.248765A>T , LRG_214:g.248765A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6839A>T	ENSP00000512431.1:p.Asn2280Ile
ENST00000684826.1:c.1421A>T	ENSP00000509994.1:p.Asn474Ile
ENST00000684998.1:n.2679A>T
ENST00000687027.1:c.1013A>T	ENSP00000508715.1:p.Asn338Ile
ENST00000687863.1:n.3502A>T
ENST00000691014.1:c.6887A>T	ENSP00000510595.1:p.Asn2296Ile
ENST00000693617.1:c.1421A>T	ENSP00000510031.1:p.Asn474Ile
ENST00000358273.9:c.6857A>T MANE Select	ENSP00000351015.4:p.Asn2286Ile
ENST00000356175.7:c.6794A>T	ENSP00000348498.3:p.Asn2265Ile
ENST00000358273.8:c.6857A>T	ENSP00000351015.4:p.Asn2286Ile
ENST00000456735.6:c.5792A>T	ENSP00000389907.2:p.Asn1931Ile
ENST00000471572.6:c.240A>T
ENST00000579081.5:c.6993A>T	ENSP00000462408.1:n.6993A>T
ENST00000581790.5:c.64+861A>T
ENST00000584328.1:n.271A>T
NM_000267.3:c.6794A>T , LRG_214t1:c.6794A>T	NP_000258.1:p.Asn2265Ile
NM_001042492.2:c.6857A>T , LRG_214t2:c.6857A>T	NP_001035957.1:p.Asn2286Ile
XM_005257983.1:c.6857A>T	XP_005258040.1:p.Asn2286Ile
XM_005257984.1:c.6794A>T	XP_005258041.1:p.Asn2265Ile
XM_006721922.1:c.6887A>T	XP_006721985.1:p.Asn2296Ile
XM_006721923.2:c.6848A>T	XP_006721986.1:p.Asn2283Ile
XM_006721924.1:c.6887A>T	XP_006721987.1:p.Asn2296Ile
XM_006721925.1:c.6824A>T	XP_006721988.1:p.Asn2275Ile
XM_006721926.2:c.6887A>T	XP_006721989.1:p.Asn2296Ile
XM_006721927.1:c.6887A>T	XP_006721990.1:p.Asn2296Ile
XM_011524852.1:c.6884A>T	XP_011523154.1:p.Asn2295Ile
XM_011524853.1:c.6848A>T	XP_011523155.1:p.Asn2283Ile
XM_011524854.1:c.6848A>T	XP_011523156.1:p.Asn2283Ile
XM_011524855.1:c.6848A>T	XP_011523157.1:p.Asn2283Ile
XM_011524856.1:c.6848A>T	XP_011523158.1:p.Asn2283Ile
XM_011524857.1:c.6887A>T	XP_011523159.1:p.Asn2296Ile
NM_001042492.3:c.6857A>T MANE Select	NP_001035957.1:p.Asn2286Ile