Canonical Allele Identifier: CA8486159

Gene: NF1

Linked Data

• ClinVar Variation Id: 457643
• ClinVar RCV Id: RCV000527707 ; RCV000764107 ; RCV001020116 ; RCV001574886 ; RCV002448634
• dbSNP Id: rs374472758
• ExAC: 17:29559774 G / A
• gnomAD v2: 17-29559774-G-A
• gnomAD v3: 17-31232756-G-A
• gnomAD v4: 17-31232756-G-A
• MyVariant Identifiers: chr17:g.29559774G>A (hg19) ; chr17:g.31232756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31232756G>A , CM000679.2:g.31232756G>A	GRCh38
NC_000017.10:g.29559774G>A , CM000679.1:g.29559774G>A	GRCh37
NC_000017.9:g.26583900G>A	NCBI36
NG_009018.1:g.142780G>A , LRG_214:g.142780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3416G>A	ENSP00000512431.1:p.Ser1139Asn
ENST00000696139.1:c.716G>A	ENSP00000512432.1:p.Ser239Asn
ENST00000691014.1:c.3401G>A	ENSP00000510595.1:p.Ser1134Asn
ENST00000693210.1:n.97G>A
ENST00000358273.9:c.3371G>A MANE Select	ENSP00000351015.4:p.Ser1124Asn
ENST00000356175.7:c.3371G>A	ENSP00000348498.3:p.Ser1124Asn
ENST00000358273.8:c.3371G>A	ENSP00000351015.4:p.Ser1124Asn
ENST00000456735.6:c.2369G>A	ENSP00000389907.2:p.Ser790Asn
ENST00000493220.5:n.1907G>A
ENST00000495910.6:c.3146G>A
ENST00000579081.5:c.3473G>A	ENSP00000462408.1:p.Ser1158Asn
NM_000267.3:c.3371G>A , LRG_214t1:c.3371G>A	NP_000258.1:p.Ser1124Asn
NM_001042492.2:c.3371G>A , LRG_214t2:c.3371G>A	NP_001035957.1:p.Ser1124Asn
XM_005257983.1:c.3371G>A	XP_005258040.1:p.Ser1124Asn
XM_005257984.1:c.3371G>A	XP_005258041.1:p.Ser1124Asn
XM_006721922.1:c.3401G>A	XP_006721985.1:p.Ser1134Asn
XM_006721923.2:c.3362G>A	XP_006721986.1:p.Ser1121Asn
XM_006721924.1:c.3401G>A	XP_006721987.1:p.Ser1134Asn
XM_006721925.1:c.3401G>A	XP_006721988.1:p.Ser1134Asn
XM_006721926.2:c.3401G>A	XP_006721989.1:p.Ser1134Asn
XM_006721927.1:c.3401G>A	XP_006721990.1:p.Ser1134Asn
XM_006721928.2:c.3401G>A	XP_006721991.1:p.Ser1134Asn
XM_011524852.1:c.3398G>A	XP_011523154.1:p.Ser1133Asn
XM_011524853.1:c.3362G>A	XP_011523155.1:p.Ser1121Asn
XM_011524854.1:c.3362G>A	XP_011523156.1:p.Ser1121Asn
XM_011524855.1:c.3362G>A	XP_011523157.1:p.Ser1121Asn
XM_011524856.1:c.3362G>A	XP_011523158.1:p.Ser1121Asn
XM_011524857.1:c.3401G>A	XP_011523159.1:p.Ser1134Asn
NM_001042492.3:c.3371G>A MANE Select	NP_001035957.1:p.Ser1124Asn