Canonical Allele Identifier: CA399016706

Gene: NF1

Linked Data

• COSMIC: COSM6315901 ; COSM6315902 ; COSM6315903
• MyVariant Identifiers: chr17:g.29676164G>T (hg19) ; chr17:g.31349146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31349146G>T , CM000679.2:g.31349146G>T	GRCh38
NC_000017.10:g.29676164G>T , CM000679.1:g.29676164G>T	GRCh37
NC_000017.9:g.26700290G>T	NCBI36
NG_009018.1:g.259170G>T , LRG_214:g.259170G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7198G>T	ENSP00000512431.1:p.Val2400Phe
ENST00000684826.1:c.1780G>T	ENSP00000509994.1:p.Val594Phe
ENST00000687027.1:c.1372G>T	ENSP00000508715.1:p.Val458Phe
ENST00000687863.1:n.3861G>T
ENST00000689464.1:c.266G>T
ENST00000691014.1:c.7246G>T	ENSP00000510595.1:p.Val2416Phe
ENST00000693617.1:c.1780G>T	ENSP00000510031.1:p.Val594Phe
ENST00000358273.9:c.7216G>T MANE Select	ENSP00000351015.4:p.Val2406Phe
ENST00000356175.7:c.7153G>T	ENSP00000348498.3:p.Val2385Phe
ENST00000358273.8:c.7216G>T	ENSP00000351015.4:p.Val2406Phe
ENST00000456735.6:c.6151G>T	ENSP00000389907.2:p.Val2051Phe
ENST00000471572.6:c.599G>T
ENST00000579081.5:c.7352G>T	ENSP00000462408.1:n.7352G>T
ENST00000581790.5:c.359G>T
ENST00000582892.1:n.458G>T
NM_000267.3:c.7153G>T , LRG_214t1:c.7153G>T	NP_000258.1:p.Val2385Phe
NM_001042492.2:c.7216G>T , LRG_214t2:c.7216G>T	NP_001035957.1:p.Val2406Phe
XM_005257983.1:c.7216G>T	XP_005258040.1:p.Val2406Phe
XM_005257984.1:c.7153G>T	XP_005258041.1:p.Val2385Phe
XM_006721922.1:c.7246G>T	XP_006721985.1:p.Val2416Phe
XM_006721923.2:c.7207G>T	XP_006721986.1:p.Val2403Phe
XM_006721924.1:c.7246G>T	XP_006721987.1:p.Val2416Phe
XM_006721925.1:c.7183G>T	XP_006721988.1:p.Val2395Phe
XM_006721926.2:c.7246G>T	XP_006721989.1:p.Val2416Phe
XM_006721927.1:c.7246G>T	XP_006721990.1:p.Val2416Phe
XM_011524852.1:c.7243G>T	XP_011523154.1:p.Val2415Phe
XM_011524853.1:c.7207G>T	XP_011523155.1:p.Val2403Phe
XM_011524854.1:c.7207G>T	XP_011523156.1:p.Val2403Phe
XM_011524855.1:c.7207G>T	XP_011523157.1:p.Val2403Phe
XM_011524856.1:c.7207G>T	XP_011523158.1:p.Val2403Phe
XM_011524857.1:c.7246G>T	XP_011523159.1:p.Val2416Phe
NM_001042492.3:c.7216G>T MANE Select	NP_001035957.1:p.Val2406Phe