Canonical Allele Identifier: CA399001267

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29592299T>A (hg19) ; chr17:g.31265281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265281T>A , CM000679.2:g.31265281T>A	GRCh38
NC_000017.10:g.29592299T>A , CM000679.1:g.29592299T>A	GRCh37
NC_000017.9:g.26616425T>A	NCBI36
NG_009018.1:g.175305T>A , LRG_214:g.175305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.579T>A	ENSP00000492721.2:n.579T>A
ENST00000696138.1:c.4759T>A	ENSP00000512431.1:p.Phe1587Ile
ENST00000696140.1:n.883T>A
ENST00000696141.1:c.768T>A
ENST00000687863.1:n.1422T>A
ENST00000691014.1:c.4807T>A	ENSP00000510595.1:p.Phe1603Ile
ENST00000358273.9:c.4777T>A MANE Select	ENSP00000351015.4:p.Phe1593Ile
ENST00000356175.7:c.4714T>A	ENSP00000348498.3:p.Phe1572Ile
ENST00000358273.8:c.4777T>A	ENSP00000351015.4:p.Phe1593Ile
ENST00000456735.6:c.3712T>A	ENSP00000389907.2:p.Phe1238Ile
ENST00000493220.5:n.3250T>A
ENST00000579081.5:c.4816T>A	ENSP00000462408.1:p.Phe1606Ile
NM_000267.3:c.4714T>A , LRG_214t1:c.4714T>A	NP_000258.1:p.Phe1572Ile
NM_001042492.2:c.4777T>A , LRG_214t2:c.4777T>A	NP_001035957.1:p.Phe1593Ile
XM_005257983.1:c.4777T>A	XP_005258040.1:p.Phe1593Ile
XM_005257984.1:c.4714T>A	XP_005258041.1:p.Phe1572Ile
XM_006721922.1:c.4807T>A	XP_006721985.1:p.Phe1603Ile
XM_006721923.2:c.4768T>A	XP_006721986.1:p.Phe1590Ile
XM_006721924.1:c.4807T>A	XP_006721987.1:p.Phe1603Ile
XM_006721925.1:c.4744T>A	XP_006721988.1:p.Phe1582Ile
XM_006721926.2:c.4807T>A	XP_006721989.1:p.Phe1603Ile
XM_006721927.1:c.4807T>A	XP_006721990.1:p.Phe1603Ile
XM_006721928.2:c.4807T>A	XP_006721991.1:p.Phe1603Ile
XM_011524852.1:c.4804T>A	XP_011523154.1:p.Phe1602Ile
XM_011524853.1:c.4768T>A	XP_011523155.1:p.Phe1590Ile
XM_011524854.1:c.4768T>A	XP_011523156.1:p.Phe1590Ile
XM_011524855.1:c.4768T>A	XP_011523157.1:p.Phe1590Ile
XM_011524856.1:c.4768T>A	XP_011523158.1:p.Phe1590Ile
XM_011524857.1:c.4807T>A	XP_011523159.1:p.Phe1603Ile
NM_001042492.3:c.4777T>A MANE Select	NP_001035957.1:p.Phe1593Ile