Canonical Allele Identifier: CA399014290

Gene: NF1

Linked Data

• dbSNP Id: rs2151559144
• MyVariant Identifiers: chr17:g.29665744G>C (hg19) ; chr17:g.31338726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338726G>C , CM000679.2:g.31338726G>C	GRCh38
NC_000017.10:g.29665744G>C , CM000679.1:g.29665744G>C	GRCh37
NC_000017.9:g.26689870G>C	NCBI36
NG_009018.1:g.248750G>C , LRG_214:g.248750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6824G>C	ENSP00000512431.1:p.Gly2275Ala
ENST00000684826.1:c.1406G>C	ENSP00000509994.1:p.Gly469Ala
ENST00000684998.1:n.2664G>C
ENST00000687027.1:c.998G>C	ENSP00000508715.1:p.Gly333Ala
ENST00000687863.1:n.3487G>C
ENST00000691014.1:c.6872G>C	ENSP00000510595.1:p.Gly2291Ala
ENST00000693617.1:c.1406G>C	ENSP00000510031.1:p.Gly469Ala
ENST00000358273.9:c.6842G>C MANE Select	ENSP00000351015.4:p.Gly2281Ala
ENST00000356175.7:c.6779G>C	ENSP00000348498.3:p.Gly2260Ala
ENST00000358273.8:c.6842G>C	ENSP00000351015.4:p.Gly2281Ala
ENST00000456735.6:c.5777G>C	ENSP00000389907.2:p.Gly1926Ala
ENST00000471572.6:c.225G>C
ENST00000579081.5:c.6978G>C	ENSP00000462408.1:n.6978G>C
ENST00000581790.5:c.64+846G>C
ENST00000584328.1:n.256G>C
NM_000267.3:c.6779G>C , LRG_214t1:c.6779G>C	NP_000258.1:p.Gly2260Ala
NM_001042492.2:c.6842G>C , LRG_214t2:c.6842G>C	NP_001035957.1:p.Gly2281Ala
XM_005257983.1:c.6842G>C	XP_005258040.1:p.Gly2281Ala
XM_005257984.1:c.6779G>C	XP_005258041.1:p.Gly2260Ala
XM_006721922.1:c.6872G>C	XP_006721985.1:p.Gly2291Ala
XM_006721923.2:c.6833G>C	XP_006721986.1:p.Gly2278Ala
XM_006721924.1:c.6872G>C	XP_006721987.1:p.Gly2291Ala
XM_006721925.1:c.6809G>C	XP_006721988.1:p.Gly2270Ala
XM_006721926.2:c.6872G>C	XP_006721989.1:p.Gly2291Ala
XM_006721927.1:c.6872G>C	XP_006721990.1:p.Gly2291Ala
XM_011524852.1:c.6869G>C	XP_011523154.1:p.Gly2290Ala
XM_011524853.1:c.6833G>C	XP_011523155.1:p.Gly2278Ala
XM_011524854.1:c.6833G>C	XP_011523156.1:p.Gly2278Ala
XM_011524855.1:c.6833G>C	XP_011523157.1:p.Gly2278Ala
XM_011524856.1:c.6833G>C	XP_011523158.1:p.Gly2278Ala
XM_011524857.1:c.6872G>C	XP_011523159.1:p.Gly2291Ala
NM_001042492.3:c.6842G>C MANE Select	NP_001035957.1:p.Gly2281Ala