Canonical Allele Identifier: CA188630

Gene: NF1

Linked Data

• ClinVar Variation Id: 184331
• ClinVar RCV Id: RCV000163563 ; RCV000681275 ; RCV001082777 ; RCV004551401
• dbSNP Id: rs748303121
• ExAC: 17:29556180 A / C
• gnomAD v2: 17-29556180-A-C
• gnomAD v4: 17-31229162-A-C
• MyVariant Identifiers: chr17:g.29556180A>C (hg19) ; chr17:g.31229162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229162A>C , CM000679.2:g.31229162A>C	GRCh38
NC_000017.10:g.29556180A>C , CM000679.1:g.29556180A>C	GRCh37
NC_000017.9:g.26580306A>C	NCBI36
NG_009018.1:g.139186A>C , LRG_214:g.139186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2592A>C	ENSP00000512431.1:p.Gly864=
ENST00000691014.1:c.2577A>C	ENSP00000510595.1:p.Gly859=
ENST00000358273.9:c.2547A>C MANE Select	ENSP00000351015.4:p.Gly849=
ENST00000356175.7:c.2547A>C	ENSP00000348498.3:p.Gly849=
ENST00000358273.8:c.2547A>C	ENSP00000351015.4:p.Gly849=
ENST00000456735.6:c.1545A>C	ENSP00000389907.2:p.Gly515=
ENST00000493220.5:n.714A>C
ENST00000495910.6:c.2322A>C
ENST00000579081.5:c.2649A>C	ENSP00000462408.1:p.Gly883=
NM_000267.3:c.2547A>C , LRG_214t1:c.2547A>C	NP_000258.1:p.Gly849=
NM_001042492.2:c.2547A>C , LRG_214t2:c.2547A>C	NP_001035957.1:p.Gly849=
XM_005257983.1:c.2547A>C	XP_005258040.1:p.Gly849=
XM_005257984.1:c.2547A>C	XP_005258041.1:p.Gly849=
XM_006721922.1:c.2577A>C	XP_006721985.1:p.Gly859=
XM_006721923.2:c.2538A>C	XP_006721986.1:p.Gly846=
XM_006721924.1:c.2577A>C	XP_006721987.1:p.Gly859=
XM_006721925.1:c.2577A>C	XP_006721988.1:p.Gly859=
XM_006721926.2:c.2577A>C	XP_006721989.1:p.Gly859=
XM_006721927.1:c.2577A>C	XP_006721990.1:p.Gly859=
XM_006721928.2:c.2577A>C	XP_006721991.1:p.Gly859=
XM_011524852.1:c.2574A>C	XP_011523154.1:p.Gly858=
XM_011524853.1:c.2538A>C	XP_011523155.1:p.Gly846=
XM_011524854.1:c.2538A>C	XP_011523156.1:p.Gly846=
XM_011524855.1:c.2538A>C	XP_011523157.1:p.Gly846=
XM_011524856.1:c.2538A>C	XP_011523158.1:p.Gly846=
XM_011524857.1:c.2577A>C	XP_011523159.1:p.Gly859=
NM_001042492.3:c.2547A>C MANE Select	NP_001035957.1:p.Gly849=