Canonical Allele Identifier: CA399001273

Gene: NF1

Linked Data

• dbSNP Id: rs2151470179
• MyVariant Identifiers: chr17:g.29592301C>G (hg19) ; chr17:g.31265283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265283C>G , CM000679.2:g.31265283C>G	GRCh38
NC_000017.10:g.29592301C>G , CM000679.1:g.29592301C>G	GRCh37
NC_000017.9:g.26616427C>G	NCBI36
NG_009018.1:g.175307C>G , LRG_214:g.175307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.581C>G	ENSP00000492721.2:n.581C>G
ENST00000696138.1:c.4761C>G	ENSP00000512431.1:p.Phe1587Leu
ENST00000696140.1:n.885C>G
ENST00000696141.1:c.770C>G
ENST00000687863.1:n.1424C>G
ENST00000691014.1:c.4809C>G	ENSP00000510595.1:p.Phe1603Leu
ENST00000358273.9:c.4779C>G MANE Select	ENSP00000351015.4:p.Phe1593Leu
ENST00000356175.7:c.4716C>G	ENSP00000348498.3:p.Phe1572Leu
ENST00000358273.8:c.4779C>G	ENSP00000351015.4:p.Phe1593Leu
ENST00000456735.6:c.3714C>G	ENSP00000389907.2:p.Phe1238Leu
ENST00000493220.5:n.3252C>G
ENST00000579081.5:c.4818C>G	ENSP00000462408.1:p.Phe1606Leu
NM_000267.3:c.4716C>G , LRG_214t1:c.4716C>G	NP_000258.1:p.Phe1572Leu
NM_001042492.2:c.4779C>G , LRG_214t2:c.4779C>G	NP_001035957.1:p.Phe1593Leu
XM_005257983.1:c.4779C>G	XP_005258040.1:p.Phe1593Leu
XM_005257984.1:c.4716C>G	XP_005258041.1:p.Phe1572Leu
XM_006721922.1:c.4809C>G	XP_006721985.1:p.Phe1603Leu
XM_006721923.2:c.4770C>G	XP_006721986.1:p.Phe1590Leu
XM_006721924.1:c.4809C>G	XP_006721987.1:p.Phe1603Leu
XM_006721925.1:c.4746C>G	XP_006721988.1:p.Phe1582Leu
XM_006721926.2:c.4809C>G	XP_006721989.1:p.Phe1603Leu
XM_006721927.1:c.4809C>G	XP_006721990.1:p.Phe1603Leu
XM_006721928.2:c.4809C>G	XP_006721991.1:p.Phe1603Leu
XM_011524852.1:c.4806C>G	XP_011523154.1:p.Phe1602Leu
XM_011524853.1:c.4770C>G	XP_011523155.1:p.Phe1590Leu
XM_011524854.1:c.4770C>G	XP_011523156.1:p.Phe1590Leu
XM_011524855.1:c.4770C>G	XP_011523157.1:p.Phe1590Leu
XM_011524856.1:c.4770C>G	XP_011523158.1:p.Phe1590Leu
XM_011524857.1:c.4809C>G	XP_011523159.1:p.Phe1603Leu
NM_001042492.3:c.4779C>G MANE Select	NP_001035957.1:p.Phe1593Leu