Canonical Allele Identifier: CA499236820

Gene: NF1

Linked Data

• dbSNP Id: rs2151565039
• MyVariant Identifiers: chr17:g.29670062T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343044T>C , CM000679.2:g.31343044T>C	GRCh38
NC_000017.10:g.29670062T>C , CM000679.1:g.29670062T>C	GRCh37
NC_000017.9:g.26694188T>C	NCBI36
NG_009018.1:g.253068T>C , LRG_214:g.253068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7080T>C	ENSP00000512431.1:p.Pro2360=
ENST00000684826.1:c.1662T>C	ENSP00000509994.1:p.Pro554=
ENST00000687027.1:c.1254T>C	ENSP00000508715.1:p.Pro418=
ENST00000687863.1:n.3743T>C
ENST00000689464.1:c.37T>C
ENST00000691014.1:c.7128T>C	ENSP00000510595.1:p.Pro2376=
ENST00000693617.1:c.1662T>C	ENSP00000510031.1:p.Pro554=
ENST00000358273.9:c.7098T>C MANE Select	ENSP00000351015.4:p.Pro2366=
ENST00000356175.7:c.7035T>C	ENSP00000348498.3:p.Pro2345=
ENST00000358273.8:c.7098T>C	ENSP00000351015.4:p.Pro2366=
ENST00000456735.6:c.6033T>C	ENSP00000389907.2:p.Pro2011=
ENST00000471572.6:c.481T>C
ENST00000579081.5:c.7234T>C	ENSP00000462408.1:n.7234T>C
ENST00000581790.5:c.241T>C
ENST00000582892.1:n.340T>C
ENST00000584328.1:n.512T>C
NM_000267.3:c.7035T>C , LRG_214t1:c.7035T>C	NP_000258.1:p.Pro2345=
NM_001042492.2:c.7098T>C , LRG_214t2:c.7098T>C	NP_001035957.1:p.Pro2366=
XM_005257983.1:c.7098T>C	XP_005258040.1:p.Pro2366=
XM_005257984.1:c.7035T>C	XP_005258041.1:p.Pro2345=
XM_006721922.1:c.7128T>C	XP_006721985.1:p.Pro2376=
XM_006721923.2:c.7089T>C	XP_006721986.1:p.Pro2363=
XM_006721924.1:c.7128T>C	XP_006721987.1:p.Pro2376=
XM_006721925.1:c.7065T>C	XP_006721988.1:p.Pro2355=
XM_006721926.2:c.7128T>C	XP_006721989.1:p.Pro2376=
XM_006721927.1:c.7128T>C	XP_006721990.1:p.Pro2376=
XM_011524852.1:c.7125T>C	XP_011523154.1:p.Pro2375=
XM_011524853.1:c.7089T>C	XP_011523155.1:p.Pro2363=
XM_011524854.1:c.7089T>C	XP_011523156.1:p.Pro2363=
XM_011524855.1:c.7089T>C	XP_011523157.1:p.Pro2363=
XM_011524856.1:c.7089T>C	XP_011523158.1:p.Pro2363=
XM_011524857.1:c.7128T>C	XP_011523159.1:p.Pro2376=
NM_001042492.3:c.7098T>C MANE Select	NP_001035957.1:p.Pro2366=