Canonical Allele Identifier: CA197956

Gene: NF1

Linked Data

• ClinVar Variation Id: 187560
• ClinVar RCV Id: RCV000167299 ; RCV000793704 ; RCV001824127
• dbSNP Id: rs786203824
• gnomAD v2: 17-29657472-C-T
• gnomAD v3: 17-31330454-C-T
• gnomAD v4: 17-31330454-C-T
• COSMIC: COSM3179852 ; COSM3179853
• MyVariant Identifiers: chr17:g.29657472C>T (hg19) ; chr17:g.31330454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330454C>T , CM000679.2:g.31330454C>T	GRCh38
NC_000017.10:g.29657472C>T , CM000679.1:g.29657472C>T	GRCh37
NC_000017.9:g.26681598C>T	NCBI36
NG_009018.1:g.240478C>T , LRG_214:g.240478C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.1956C>T	ENSP00000492721.2:n.1956C>T
ENST00000696138.1:c.5750C>T	ENSP00000512431.1:p.Thr1917Met
ENST00000684826.1:c.332C>T	ENSP00000509994.1:p.Thr111Met
ENST00000687027.1:c.-77C>T	ENSP00000508715.1:n.-77C>T
ENST00000687863.1:n.2413C>T
ENST00000691014.1:c.5798C>T	ENSP00000510595.1:p.Thr1933Met
ENST00000693617.1:c.332C>T	ENSP00000510031.1:p.Thr111Met
ENST00000358273.9:c.5768C>T MANE Select	ENSP00000351015.4:p.Thr1923Met
ENST00000356175.7:c.5705C>T	ENSP00000348498.3:p.Thr1902Met
ENST00000358273.8:c.5768C>T	ENSP00000351015.4:p.Thr1923Met
ENST00000456735.6:c.4703C>T	ENSP00000389907.2:p.Thr1568Met
ENST00000479536.2:c.126C>T
ENST00000493220.5:n.4241C>T
ENST00000579081.5:c.5904C>T	ENSP00000462408.1:n.5904C>T
ENST00000581113.6:n.1085C>T
NM_000267.3:c.5705C>T , LRG_214t1:c.5705C>T	NP_000258.1:p.Thr1902Met
NM_001042492.2:c.5768C>T , LRG_214t2:c.5768C>T	NP_001035957.1:p.Thr1923Met
XM_005257983.1:c.5768C>T	XP_005258040.1:p.Thr1923Met
XM_005257984.1:c.5705C>T	XP_005258041.1:p.Thr1902Met
XM_006721922.1:c.5798C>T	XP_006721985.1:p.Thr1933Met
XM_006721923.2:c.5759C>T	XP_006721986.1:p.Thr1920Met
XM_006721924.1:c.5798C>T	XP_006721987.1:p.Thr1933Met
XM_006721925.1:c.5735C>T	XP_006721988.1:p.Thr1912Met
XM_006721926.2:c.5798C>T	XP_006721989.1:p.Thr1933Met
XM_006721927.1:c.5798C>T	XP_006721990.1:p.Thr1933Met
XM_011524852.1:c.5795C>T	XP_011523154.1:p.Thr1932Met
XM_011524853.1:c.5759C>T	XP_011523155.1:p.Thr1920Met
XM_011524854.1:c.5759C>T	XP_011523156.1:p.Thr1920Met
XM_011524855.1:c.5759C>T	XP_011523157.1:p.Thr1920Met
XM_011524856.1:c.5759C>T	XP_011523158.1:p.Thr1920Met
XM_011524857.1:c.5798C>T	XP_011523159.1:p.Thr1933Met
NM_001042492.3:c.5768C>T MANE Select	NP_001035957.1:p.Thr1923Met