Canonical Allele Identifier: CA198197

Gene: NF1

Linked Data

• ClinVar Variation Id: 187652
• ClinVar RCV Id: RCV000167400 ; RCV000762994 ; RCV002274922
• dbSNP Id: rs786203896
• MyVariant Identifiers: chr17:g.29657486G>T (hg19) ; chr17:g.31330468G>T (hg38)
• PubMed: PMID:15523642 ; PMID:17311297

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330468G>T , CM000679.2:g.31330468G>T	GRCh38
NC_000017.10:g.29657486G>T , CM000679.1:g.29657486G>T	GRCh37
NC_000017.9:g.26681612G>T	NCBI36
NG_009018.1:g.240492G>T , LRG_214:g.240492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1970G>T	ENSP00000492721.2:n.1970G>T
ENST00000696138.1:c.5764G>T	ENSP00000512431.1:p.Glu1922Ter
ENST00000684826.1:c.346G>T	ENSP00000509994.1:p.Glu116Ter
ENST00000687027.1:c.-63G>T	ENSP00000508715.1:n.-63G>T
ENST00000687863.1:n.2427G>T
ENST00000691014.1:c.5812G>T	ENSP00000510595.1:p.Glu1938Ter
ENST00000693617.1:c.346G>T	ENSP00000510031.1:p.Glu116Ter
ENST00000358273.9:c.5782G>T MANE Select	ENSP00000351015.4:p.Glu1928Ter
ENST00000356175.7:c.5719G>T	ENSP00000348498.3:p.Glu1907Ter
ENST00000358273.8:c.5782G>T	ENSP00000351015.4:p.Glu1928Ter
ENST00000456735.6:c.4717G>T	ENSP00000389907.2:p.Glu1573Ter
ENST00000479536.2:c.140G>T
ENST00000493220.5:n.4255G>T
ENST00000579081.5:c.5918G>T	ENSP00000462408.1:n.5918G>T
ENST00000581113.6:n.1099G>T
NM_000267.3:c.5719G>T , LRG_214t1:c.5719G>T	NP_000258.1:p.Glu1907Ter
NM_001042492.2:c.5782G>T , LRG_214t2:c.5782G>T	NP_001035957.1:p.Glu1928Ter
XM_005257983.1:c.5782G>T	XP_005258040.1:p.Glu1928Ter
XM_005257984.1:c.5719G>T	XP_005258041.1:p.Glu1907Ter
XM_006721922.1:c.5812G>T	XP_006721985.1:p.Glu1938Ter
XM_006721923.2:c.5773G>T	XP_006721986.1:p.Glu1925Ter
XM_006721924.1:c.5812G>T	XP_006721987.1:p.Glu1938Ter
XM_006721925.1:c.5749G>T	XP_006721988.1:p.Glu1917Ter
XM_006721926.2:c.5812G>T	XP_006721989.1:p.Glu1938Ter
XM_006721927.1:c.5812G>T	XP_006721990.1:p.Glu1938Ter
XM_011524852.1:c.5809G>T	XP_011523154.1:p.Glu1937Ter
XM_011524853.1:c.5773G>T	XP_011523155.1:p.Glu1925Ter
XM_011524854.1:c.5773G>T	XP_011523156.1:p.Glu1925Ter
XM_011524855.1:c.5773G>T	XP_011523157.1:p.Glu1925Ter
XM_011524856.1:c.5773G>T	XP_011523158.1:p.Glu1925Ter
XM_011524857.1:c.5812G>T	XP_011523159.1:p.Glu1938Ter
NM_001042492.3:c.5782G>T MANE Select	NP_001035957.1:p.Glu1928Ter