Canonical Allele Identifier: CA194631

Gene: NF1

Linked Data

• ClinVar Variation Id: 186368
• ClinVar RCV Id: RCV000165952 ; RCV000438362 ; RCV001221036
• dbSNP Id: rs183296277
• ExAC: 17:29560213 G / A
• gnomAD v2: 17-29560213-G-A
• gnomAD v4: 17-31233195-G-A
• MyVariant Identifiers: chr17:g.29560213G>A (hg19) ; chr17:g.31233195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233195G>A , CM000679.2:g.31233195G>A	GRCh38
NC_000017.10:g.29560213G>A , CM000679.1:g.29560213G>A	GRCh37
NC_000017.9:g.26584339G>A	NCBI36
NG_009018.1:g.143219G>A , LRG_214:g.143219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3735G>A	ENSP00000512431.1:p.Val1245=
ENST00000696139.1:c.1035G>A	ENSP00000512432.1:p.Val345=
ENST00000691014.1:c.3720G>A	ENSP00000510595.1:p.Val1240=
ENST00000693210.1:n.416G>A
ENST00000358273.9:c.3690G>A MANE Select	ENSP00000351015.4:p.Val1230=
ENST00000356175.7:c.3690G>A	ENSP00000348498.3:p.Val1230=
ENST00000358273.8:c.3690G>A	ENSP00000351015.4:p.Val1230=
ENST00000456735.6:c.2688G>A	ENSP00000389907.2:p.Val896=
ENST00000466819.5:c.166G>A
ENST00000479614.1:c.166G>A
ENST00000493220.5:n.2226G>A
ENST00000495910.6:c.3465G>A
ENST00000579081.5:c.3792G>A	ENSP00000462408.1:p.Val1264=
NM_000267.3:c.3690G>A , LRG_214t1:c.3690G>A	NP_000258.1:p.Val1230=
NM_001042492.2:c.3690G>A , LRG_214t2:c.3690G>A	NP_001035957.1:p.Val1230=
XM_005257983.1:c.3690G>A	XP_005258040.1:p.Val1230=
XM_005257984.1:c.3690G>A	XP_005258041.1:p.Val1230=
XM_006721922.1:c.3720G>A	XP_006721985.1:p.Val1240=
XM_006721923.2:c.3681G>A	XP_006721986.1:p.Val1227=
XM_006721924.1:c.3720G>A	XP_006721987.1:p.Val1240=
XM_006721925.1:c.3720G>A	XP_006721988.1:p.Val1240=
XM_006721926.2:c.3720G>A	XP_006721989.1:p.Val1240=
XM_006721927.1:c.3720G>A	XP_006721990.1:p.Val1240=
XM_006721928.2:c.3720G>A	XP_006721991.1:p.Val1240=
XM_011524852.1:c.3717G>A	XP_011523154.1:p.Val1239=
XM_011524853.1:c.3681G>A	XP_011523155.1:p.Val1227=
XM_011524854.1:c.3681G>A	XP_011523156.1:p.Val1227=
XM_011524855.1:c.3681G>A	XP_011523157.1:p.Val1227=
XM_011524856.1:c.3681G>A	XP_011523158.1:p.Val1227=
XM_011524857.1:c.3720G>A	XP_011523159.1:p.Val1240=
NM_001042492.3:c.3690G>A MANE Select	NP_001035957.1:p.Val1230=