Canonical Allele Identifier: CA399014101

Gene: NF1

Linked Data

• dbSNP Id: rs1361250850
• MyVariant Identifiers: chr17:g.29665099G>C (hg19) ; chr17:g.31338081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338081G>C , CM000679.2:g.31338081G>C	GRCh38
NC_000017.10:g.29665099G>C , CM000679.1:g.29665099G>C	GRCh37
NC_000017.9:g.26689225G>C	NCBI36
NG_009018.1:g.248105G>C , LRG_214:g.248105G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6743G>C	ENSP00000512431.1:p.Cys2248Ser
ENST00000684826.1:c.1325G>C	ENSP00000509994.1:p.Cys442Ser
ENST00000684998.1:n.2019G>C
ENST00000687027.1:c.917G>C	ENSP00000508715.1:p.Cys306Ser
ENST00000687863.1:n.3406G>C
ENST00000691014.1:c.6791G>C	ENSP00000510595.1:p.Cys2264Ser
ENST00000693617.1:c.1325G>C	ENSP00000510031.1:p.Cys442Ser
ENST00000358273.9:c.6761G>C MANE Select	ENSP00000351015.4:p.Cys2254Ser
ENST00000356175.7:c.6698G>C	ENSP00000348498.3:p.Cys2233Ser
ENST00000358273.8:c.6761G>C	ENSP00000351015.4:p.Cys2254Ser
ENST00000456735.6:c.5696G>C	ENSP00000389907.2:p.Cys1899Ser
ENST00000471572.6:c.144G>C
ENST00000579081.5:c.6897G>C	ENSP00000462408.1:n.6897G>C
ENST00000581790.5:c.64+201G>C
ENST00000584328.1:n.175G>C
NM_000267.3:c.6698G>C , LRG_214t1:c.6698G>C	NP_000258.1:p.Cys2233Ser
NM_001042492.2:c.6761G>C , LRG_214t2:c.6761G>C	NP_001035957.1:p.Cys2254Ser
XM_005257983.1:c.6761G>C	XP_005258040.1:p.Cys2254Ser
XM_005257984.1:c.6698G>C	XP_005258041.1:p.Cys2233Ser
XM_006721922.1:c.6791G>C	XP_006721985.1:p.Cys2264Ser
XM_006721923.2:c.6752G>C	XP_006721986.1:p.Cys2251Ser
XM_006721924.1:c.6791G>C	XP_006721987.1:p.Cys2264Ser
XM_006721925.1:c.6728G>C	XP_006721988.1:p.Cys2243Ser
XM_006721926.2:c.6791G>C	XP_006721989.1:p.Cys2264Ser
XM_006721927.1:c.6791G>C	XP_006721990.1:p.Cys2264Ser
XM_011524852.1:c.6788G>C	XP_011523154.1:p.Cys2263Ser
XM_011524853.1:c.6752G>C	XP_011523155.1:p.Cys2251Ser
XM_011524854.1:c.6752G>C	XP_011523156.1:p.Cys2251Ser
XM_011524855.1:c.6752G>C	XP_011523157.1:p.Cys2251Ser
XM_011524856.1:c.6752G>C	XP_011523158.1:p.Cys2251Ser
XM_011524857.1:c.6791G>C	XP_011523159.1:p.Cys2264Ser
NM_001042492.3:c.6761G>C MANE Select	NP_001035957.1:p.Cys2254Ser