Canonical Allele Identifier: CA2733600646

Gene: NF1

Linked Data

• dbSNP Id: rs2151545076

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330512A>T , CM000679.2:g.31330512A>T	GRCh38
NC_000017.10:g.29657530A>T , CM000679.1:g.29657530A>T	GRCh37
NC_000017.9:g.26681656A>T	NCBI36
NG_009018.1:g.240536A>T , LRG_214:g.240536A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2000+14A>T	ENSP00000492721.2:n.2000+14A>T
ENST00000696138.1:c.5794+14A>T	ENSP00000512431.1:n.5794+14A>T
ENST00000684826.1:c.376+14A>T	ENSP00000509994.1:n.376+14A>T
ENST00000687027.1:c.-33+14A>T	ENSP00000508715.1:n.-33+14A>T
ENST00000687863.1:n.2457+14A>T
ENST00000691014.1:c.5842+14A>T	ENSP00000510595.1:n.5842+14A>T
ENST00000693617.1:c.376+14A>T	ENSP00000510031.1:n.376+14A>T
ENST00000358273.9:c.5812+14A>T MANE Select	ENSP00000351015.4:n.5812+14A>T
ENST00000356175.7:c.5749+14A>T	ENSP00000348498.3:n.5749+14A>T
ENST00000358273.8:c.5812+14A>T	ENSP00000351015.4:n.5812+14A>T
ENST00000456735.6:c.4747+14A>T	ENSP00000389907.2:n.4747+14A>T
ENST00000479536.2:c.170+14A>T
ENST00000493220.5:n.4299A>T
ENST00000579081.5:c.5948+14A>T	ENSP00000462408.1:n.5948+14A>T
ENST00000581113.6:n.1129+14A>T
NM_000267.3:c.5749+14A>T , LRG_214t1:c.5749+14A>T	NP_000258.1:n.5749+14A>T
NM_001042492.2:c.5812+14A>T , LRG_214t2:c.5812+14A>T	NP_001035957.1:n.5812+14A>T
XM_005257983.1:c.5812+14A>T	XP_005258040.1:n.5812+14A>T
XM_005257984.1:c.5749+14A>T	XP_005258041.1:n.5749+14A>T
XM_006721922.1:c.5842+14A>T	XP_006721985.1:n.5842+14A>T
XM_006721923.2:c.5803+14A>T	XP_006721986.1:n.5803+14A>T
XM_006721924.1:c.5842+14A>T	XP_006721987.1:n.5842+14A>T
XM_006721925.1:c.5779+14A>T	XP_006721988.1:n.5779+14A>T
XM_006721926.2:c.5842+14A>T	XP_006721989.1:n.5842+14A>T
XM_006721927.1:c.5842+14A>T	XP_006721990.1:n.5842+14A>T
XM_011524852.1:c.5839+14A>T	XP_011523154.1:n.5839+14A>T
XM_011524853.1:c.5803+14A>T	XP_011523155.1:n.5803+14A>T
XM_011524854.1:c.5803+14A>T	XP_011523156.1:n.5803+14A>T
XM_011524855.1:c.5803+14A>T	XP_011523157.1:n.5803+14A>T
XM_011524856.1:c.5803+14A>T	XP_011523158.1:n.5803+14A>T
XM_011524857.1:c.5842+14A>T	XP_011523159.1:n.5842+14A>T
NM_001042492.3:c.5812+14A>T MANE Select	NP_001035957.1:n.5812+14A>T