Canonical Allele Identifier: CA165427

Gene: NF1

Linked Data

• ClinVar Variation Id: 141448
• ClinVar RCV Id: RCV000129962 ; RCV000233760 ; RCV000480614 ; RCV001818308 ; RCV002483261 ; RCV003467127
• dbSNP Id: rs587781755
• gnomAD v2: 17-29585407-A-G
• gnomAD v4: 17-31258389-A-G
• MyVariant Identifiers: chr17:g.29585407A>G (hg19) ; chr17:g.31258389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258389A>G , CM000679.2:g.31258389A>G	GRCh38
NC_000017.10:g.29585407A>G , CM000679.1:g.29585407A>G	GRCh37
NC_000017.9:g.26609533A>G	NCBI36
NG_009018.1:g.168413A>G , LRG_214:g.168413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.7A>G	ENSP00000492721.2:p.Ser3Gly
ENST00000696138.1:c.4201A>G	ENSP00000512431.1:p.Ser1401Gly
ENST00000696140.1:n.325A>G
ENST00000696141.1:c.210A>G
ENST00000687863.1:n.864A>G
ENST00000691014.1:c.4249A>G	ENSP00000510595.1:p.Ser1417Gly
ENST00000691649.1:n.191A>G
ENST00000358273.9:c.4219A>G MANE Select	ENSP00000351015.4:p.Ser1407Gly
ENST00000356175.7:c.4156A>G	ENSP00000348498.3:p.Ser1386Gly
ENST00000358273.8:c.4219A>G	ENSP00000351015.4:p.Ser1407Gly
ENST00000456735.6:c.3154A>G	ENSP00000389907.2:p.Ser1052Gly
ENST00000466819.5:c.735A>G
ENST00000479614.1:c.672A>G
ENST00000493220.5:n.2692A>G
ENST00000579081.5:c.4258A>G	ENSP00000462408.1:p.Ser1420Gly
NM_000267.3:c.4156A>G , LRG_214t1:c.4156A>G	NP_000258.1:p.Ser1386Gly
NM_001042492.2:c.4219A>G , LRG_214t2:c.4219A>G	NP_001035957.1:p.Ser1407Gly
XM_005257983.1:c.4219A>G	XP_005258040.1:p.Ser1407Gly
XM_005257984.1:c.4156A>G	XP_005258041.1:p.Ser1386Gly
XM_006721922.1:c.4249A>G	XP_006721985.1:p.Ser1417Gly
XM_006721923.2:c.4210A>G	XP_006721986.1:p.Ser1404Gly
XM_006721924.1:c.4249A>G	XP_006721987.1:p.Ser1417Gly
XM_006721925.1:c.4186A>G	XP_006721988.1:p.Ser1396Gly
XM_006721926.2:c.4249A>G	XP_006721989.1:p.Ser1417Gly
XM_006721927.1:c.4249A>G	XP_006721990.1:p.Ser1417Gly
XM_006721928.2:c.4249A>G	XP_006721991.1:p.Ser1417Gly
XM_011524852.1:c.4246A>G	XP_011523154.1:p.Ser1416Gly
XM_011524853.1:c.4210A>G	XP_011523155.1:p.Ser1404Gly
XM_011524854.1:c.4210A>G	XP_011523156.1:p.Ser1404Gly
XM_011524855.1:c.4210A>G	XP_011523157.1:p.Ser1404Gly
XM_011524856.1:c.4210A>G	XP_011523158.1:p.Ser1404Gly
XM_011524857.1:c.4249A>G	XP_011523159.1:p.Ser1417Gly
NM_001042492.3:c.4219A>G MANE Select	NP_001035957.1:p.Ser1407Gly