Canonical Allele Identifier: CA499443885

Gene: NF1

Linked Data

• ClinVar Variation Id: 1156959
• ClinVar RCV Id: RCV001499843
• dbSNP Id: rs2067145396
• gnomAD v4: 17-31233204-T-C
• MyVariant Identifiers: chr17:g.29560222T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233204T>C , CM000679.2:g.31233204T>C	GRCh38
NC_000017.10:g.29560222T>C , CM000679.1:g.29560222T>C	GRCh37
NC_000017.9:g.26584348T>C	NCBI36
NG_009018.1:g.143228T>C , LRG_214:g.143228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3744T>C	ENSP00000512431.1:p.Cys1248=
ENST00000696139.1:c.1044T>C	ENSP00000512432.1:p.Cys348=
ENST00000691014.1:c.3729T>C	ENSP00000510595.1:p.Cys1243=
ENST00000693210.1:n.425T>C
ENST00000358273.9:c.3699T>C MANE Select	ENSP00000351015.4:p.Cys1233=
ENST00000356175.7:c.3699T>C	ENSP00000348498.3:p.Cys1233=
ENST00000358273.8:c.3699T>C	ENSP00000351015.4:p.Cys1233=
ENST00000456735.6:c.2697T>C	ENSP00000389907.2:p.Cys899=
ENST00000466819.5:c.175T>C
ENST00000479614.1:c.175T>C
ENST00000493220.5:n.2235T>C
ENST00000495910.6:c.3474T>C
ENST00000579081.5:c.3801T>C	ENSP00000462408.1:p.Cys1267=
NM_000267.3:c.3699T>C , LRG_214t1:c.3699T>C	NP_000258.1:p.Cys1233=
NM_001042492.2:c.3699T>C , LRG_214t2:c.3699T>C	NP_001035957.1:p.Cys1233=
XM_005257983.1:c.3699T>C	XP_005258040.1:p.Cys1233=
XM_005257984.1:c.3699T>C	XP_005258041.1:p.Cys1233=
XM_006721922.1:c.3729T>C	XP_006721985.1:p.Cys1243=
XM_006721923.2:c.3690T>C	XP_006721986.1:p.Cys1230=
XM_006721924.1:c.3729T>C	XP_006721987.1:p.Cys1243=
XM_006721925.1:c.3729T>C	XP_006721988.1:p.Cys1243=
XM_006721926.2:c.3729T>C	XP_006721989.1:p.Cys1243=
XM_006721927.1:c.3729T>C	XP_006721990.1:p.Cys1243=
XM_006721928.2:c.3729T>C	XP_006721991.1:p.Cys1243=
XM_011524852.1:c.3726T>C	XP_011523154.1:p.Cys1242=
XM_011524853.1:c.3690T>C	XP_011523155.1:p.Cys1230=
XM_011524854.1:c.3690T>C	XP_011523156.1:p.Cys1230=
XM_011524855.1:c.3690T>C	XP_011523157.1:p.Cys1230=
XM_011524856.1:c.3690T>C	XP_011523158.1:p.Cys1230=
XM_011524857.1:c.3729T>C	XP_011523159.1:p.Cys1243=
NM_001042492.3:c.3699T>C MANE Select	NP_001035957.1:p.Cys1233=