Canonical Allele Identifier: CA399014132

Gene: NF1

Linked Data

• ClinVar Variation Id: 1755055
• ClinVar RCV Id: RCV002367217
• MyVariant Identifiers: chr17:g.29665113G>T (hg19) ; chr17:g.31338095G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338095G>T , CM000679.2:g.31338095G>T	GRCh38
NC_000017.10:g.29665113G>T , CM000679.1:g.29665113G>T	GRCh37
NC_000017.9:g.26689239G>T	NCBI36
NG_009018.1:g.248119G>T , LRG_214:g.248119G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6757G>T	ENSP00000512431.1:p.Val2253Leu
ENST00000684826.1:c.1339G>T	ENSP00000509994.1:p.Val447Leu
ENST00000684998.1:n.2033G>T
ENST00000687027.1:c.931G>T	ENSP00000508715.1:p.Val311Leu
ENST00000687863.1:n.3420G>T
ENST00000691014.1:c.6805G>T	ENSP00000510595.1:p.Val2269Leu
ENST00000693617.1:c.1339G>T	ENSP00000510031.1:p.Val447Leu
ENST00000358273.9:c.6775G>T MANE Select	ENSP00000351015.4:p.Val2259Leu
ENST00000356175.7:c.6712G>T	ENSP00000348498.3:p.Val2238Leu
ENST00000358273.8:c.6775G>T	ENSP00000351015.4:p.Val2259Leu
ENST00000456735.6:c.5710G>T	ENSP00000389907.2:p.Val1904Leu
ENST00000471572.6:c.158G>T
ENST00000579081.5:c.6911G>T	ENSP00000462408.1:n.6911G>T
ENST00000581790.5:c.64+215G>T
ENST00000584328.1:n.189G>T
NM_000267.3:c.6712G>T , LRG_214t1:c.6712G>T	NP_000258.1:p.Val2238Leu
NM_001042492.2:c.6775G>T , LRG_214t2:c.6775G>T	NP_001035957.1:p.Val2259Leu
XM_005257983.1:c.6775G>T	XP_005258040.1:p.Val2259Leu
XM_005257984.1:c.6712G>T	XP_005258041.1:p.Val2238Leu
XM_006721922.1:c.6805G>T	XP_006721985.1:p.Val2269Leu
XM_006721923.2:c.6766G>T	XP_006721986.1:p.Val2256Leu
XM_006721924.1:c.6805G>T	XP_006721987.1:p.Val2269Leu
XM_006721925.1:c.6742G>T	XP_006721988.1:p.Val2248Leu
XM_006721926.2:c.6805G>T	XP_006721989.1:p.Val2269Leu
XM_006721927.1:c.6805G>T	XP_006721990.1:p.Val2269Leu
XM_011524852.1:c.6802G>T	XP_011523154.1:p.Val2268Leu
XM_011524853.1:c.6766G>T	XP_011523155.1:p.Val2256Leu
XM_011524854.1:c.6766G>T	XP_011523156.1:p.Val2256Leu
XM_011524855.1:c.6766G>T	XP_011523157.1:p.Val2256Leu
XM_011524856.1:c.6766G>T	XP_011523158.1:p.Val2256Leu
XM_011524857.1:c.6805G>T	XP_011523159.1:p.Val2269Leu
NM_001042492.3:c.6775G>T MANE Select	NP_001035957.1:p.Val2259Leu