Canonical Allele Identifier: CA191602

Gene: NF1

Linked Data

• ClinVar Variation Id: 185313
• ClinVar RCV Id: RCV000164712 ; RCV000907557 ; RCV001124943 ; RCV001124941 ; RCV001124942
• dbSNP Id: rs786202077
• gnomAD v4: 17-31232088-A-G
• MyVariant Identifiers: chr17:g.29559106A>G (hg19) ; chr17:g.31232088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31232088A>G , CM000679.2:g.31232088A>G	GRCh38
NC_000017.10:g.29559106A>G , CM000679.1:g.29559106A>G	GRCh37
NC_000017.9:g.26583232A>G	NCBI36
NG_009018.1:g.142112A>G , LRG_214:g.142112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3258A>G	ENSP00000512431.1:p.Ala1086=
ENST00000696139.1:c.558A>G	ENSP00000512432.1:p.Ala186=
ENST00000691014.1:c.3243A>G	ENSP00000510595.1:p.Ala1081=
ENST00000358273.9:c.3213A>G MANE Select	ENSP00000351015.4:p.Ala1071=
ENST00000356175.7:c.3213A>G	ENSP00000348498.3:p.Ala1071=
ENST00000358273.8:c.3213A>G	ENSP00000351015.4:p.Ala1071=
ENST00000456735.6:c.2211A>G	ENSP00000389907.2:p.Ala737=
ENST00000493220.5:n.1749A>G
ENST00000495910.6:c.2988A>G
ENST00000579081.5:c.3315A>G	ENSP00000462408.1:p.Ala1105=
NM_000267.3:c.3213A>G , LRG_214t1:c.3213A>G	NP_000258.1:p.Ala1071=
NM_001042492.2:c.3213A>G , LRG_214t2:c.3213A>G	NP_001035957.1:p.Ala1071=
XM_005257983.1:c.3213A>G	XP_005258040.1:p.Ala1071=
XM_005257984.1:c.3213A>G	XP_005258041.1:p.Ala1071=
XM_006721922.1:c.3243A>G	XP_006721985.1:p.Ala1081=
XM_006721923.2:c.3204A>G	XP_006721986.1:p.Ala1068=
XM_006721924.1:c.3243A>G	XP_006721987.1:p.Ala1081=
XM_006721925.1:c.3243A>G	XP_006721988.1:p.Ala1081=
XM_006721926.2:c.3243A>G	XP_006721989.1:p.Ala1081=
XM_006721927.1:c.3243A>G	XP_006721990.1:p.Ala1081=
XM_006721928.2:c.3243A>G	XP_006721991.1:p.Ala1081=
XM_011524852.1:c.3240A>G	XP_011523154.1:p.Ala1080=
XM_011524853.1:c.3204A>G	XP_011523155.1:p.Ala1068=
XM_011524854.1:c.3204A>G	XP_011523156.1:p.Ala1068=
XM_011524855.1:c.3204A>G	XP_011523157.1:p.Ala1068=
XM_011524856.1:c.3204A>G	XP_011523158.1:p.Ala1068=
XM_011524857.1:c.3243A>G	XP_011523159.1:p.Ala1081=
NM_001042492.3:c.3213A>G MANE Select	NP_001035957.1:p.Ala1071=