Canonical Allele Identifier: CA398984235

Gene: NF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229155T>A , CM000679.2:g.31229155T>A	GRCh38
NC_000017.10:g.29556173T>A , CM000679.1:g.29556173T>A	GRCh37
NC_000017.9:g.26580299T>A	NCBI36
NG_009018.1:g.139179T>A , LRG_214:g.139179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2585T>A	ENSP00000512431.1:p.Leu862His
ENST00000691014.1:c.2570T>A	ENSP00000510595.1:p.Leu857His
ENST00000358273.9:c.2540T>A MANE Select	ENSP00000351015.4:p.Leu847His
ENST00000356175.7:c.2540T>A	ENSP00000348498.3:p.Leu847His
ENST00000358273.8:c.2540T>A	ENSP00000351015.4:p.Leu847His
ENST00000456735.6:c.1538T>A	ENSP00000389907.2:p.Leu513His
ENST00000493220.5:n.707T>A
ENST00000495910.6:c.2315T>A
ENST00000579081.5:c.2642T>A	ENSP00000462408.1:p.Leu881His
NM_000267.3:c.2540T>A , LRG_214t1:c.2540T>A	NP_000258.1:p.Leu847His
NM_001042492.2:c.2540T>A , LRG_214t2:c.2540T>A	NP_001035957.1:p.Leu847His
XM_005257983.1:c.2540T>A	XP_005258040.1:p.Leu847His
XM_005257984.1:c.2540T>A	XP_005258041.1:p.Leu847His
XM_006721922.1:c.2570T>A	XP_006721985.1:p.Leu857His
XM_006721923.2:c.2531T>A	XP_006721986.1:p.Leu844His
XM_006721924.1:c.2570T>A	XP_006721987.1:p.Leu857His
XM_006721925.1:c.2570T>A	XP_006721988.1:p.Leu857His
XM_006721926.2:c.2570T>A	XP_006721989.1:p.Leu857His
XM_006721927.1:c.2570T>A	XP_006721990.1:p.Leu857His
XM_006721928.2:c.2570T>A	XP_006721991.1:p.Leu857His
XM_011524852.1:c.2567T>A	XP_011523154.1:p.Leu856His
XM_011524853.1:c.2531T>A	XP_011523155.1:p.Leu844His
XM_011524854.1:c.2531T>A	XP_011523156.1:p.Leu844His
XM_011524855.1:c.2531T>A	XP_011523157.1:p.Leu844His
XM_011524856.1:c.2531T>A	XP_011523158.1:p.Leu844His
XM_011524857.1:c.2570T>A	XP_011523159.1:p.Leu857His
NM_001042492.3:c.2540T>A MANE Select	NP_001035957.1:p.Leu847His