Canonical Allele Identifier: CA399001290

Gene: NF1

Linked Data

• ClinVar Variation Id: 1066896
• ClinVar RCV Id: RCV001378015
• dbSNP Id: rs2151470213
• MyVariant Identifiers: chr17:g.29592308G>C (hg19) ; chr17:g.31265290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265290G>C , CM000679.2:g.31265290G>C	GRCh38
NC_000017.10:g.29592308G>C , CM000679.1:g.29592308G>C	GRCh37
NC_000017.9:g.26616434G>C	NCBI36
NG_009018.1:g.175314G>C , LRG_214:g.175314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.588G>C	ENSP00000492721.2:n.588G>C
ENST00000696138.1:c.4768G>C	ENSP00000512431.1:p.Ala1590Pro
ENST00000696140.1:n.892G>C
ENST00000696141.1:c.777G>C
ENST00000687863.1:n.1431G>C
ENST00000691014.1:c.4816G>C	ENSP00000510595.1:p.Ala1606Pro
ENST00000358273.9:c.4786G>C MANE Select	ENSP00000351015.4:p.Ala1596Pro
ENST00000356175.7:c.4723G>C	ENSP00000348498.3:p.Ala1575Pro
ENST00000358273.8:c.4786G>C	ENSP00000351015.4:p.Ala1596Pro
ENST00000456735.6:c.3721G>C	ENSP00000389907.2:p.Ala1241Pro
ENST00000493220.5:n.3259G>C
ENST00000579081.5:c.4825G>C	ENSP00000462408.1:p.Ala1609Pro
NM_000267.3:c.4723G>C , LRG_214t1:c.4723G>C	NP_000258.1:p.Ala1575Pro
NM_001042492.2:c.4786G>C , LRG_214t2:c.4786G>C	NP_001035957.1:p.Ala1596Pro
XM_005257983.1:c.4786G>C	XP_005258040.1:p.Ala1596Pro
XM_005257984.1:c.4723G>C	XP_005258041.1:p.Ala1575Pro
XM_006721922.1:c.4816G>C	XP_006721985.1:p.Ala1606Pro
XM_006721923.2:c.4777G>C	XP_006721986.1:p.Ala1593Pro
XM_006721924.1:c.4816G>C	XP_006721987.1:p.Ala1606Pro
XM_006721925.1:c.4753G>C	XP_006721988.1:p.Ala1585Pro
XM_006721926.2:c.4816G>C	XP_006721989.1:p.Ala1606Pro
XM_006721927.1:c.4816G>C	XP_006721990.1:p.Ala1606Pro
XM_006721928.2:c.4816G>C	XP_006721991.1:p.Ala1606Pro
XM_011524852.1:c.4813G>C	XP_011523154.1:p.Ala1605Pro
XM_011524853.1:c.4777G>C	XP_011523155.1:p.Ala1593Pro
XM_011524854.1:c.4777G>C	XP_011523156.1:p.Ala1593Pro
XM_011524855.1:c.4777G>C	XP_011523157.1:p.Ala1593Pro
XM_011524856.1:c.4777G>C	XP_011523158.1:p.Ala1593Pro
XM_011524857.1:c.4816G>C	XP_011523159.1:p.Ala1606Pro
NM_001042492.3:c.4786G>C MANE Select	NP_001035957.1:p.Ala1596Pro