Canonical Allele Identifier: CA399001218

Gene: NF1

Linked Data

• dbSNP Id: rs2151470090
• MyVariant Identifiers: chr17:g.29592277G>C (hg19) ; chr17:g.31265259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265259G>C , CM000679.2:g.31265259G>C	GRCh38
NC_000017.10:g.29592277G>C , CM000679.1:g.29592277G>C	GRCh37
NC_000017.9:g.26616403G>C	NCBI36
NG_009018.1:g.175283G>C , LRG_214:g.175283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.557G>C	ENSP00000492721.2:n.557G>C
ENST00000696138.1:c.4737G>C	ENSP00000512431.1:p.Lys1579Asn
ENST00000696140.1:n.861G>C
ENST00000696141.1:c.746G>C
ENST00000687863.1:n.1400G>C
ENST00000691014.1:c.4785G>C	ENSP00000510595.1:p.Lys1595Asn
ENST00000358273.9:c.4755G>C MANE Select	ENSP00000351015.4:p.Lys1585Asn
ENST00000356175.7:c.4692G>C	ENSP00000348498.3:p.Lys1564Asn
ENST00000358273.8:c.4755G>C	ENSP00000351015.4:p.Lys1585Asn
ENST00000456735.6:c.3690G>C	ENSP00000389907.2:p.Lys1230Asn
ENST00000493220.5:n.3228G>C
ENST00000579081.5:c.4794G>C	ENSP00000462408.1:p.Lys1598Asn
NM_000267.3:c.4692G>C , LRG_214t1:c.4692G>C	NP_000258.1:p.Lys1564Asn
NM_001042492.2:c.4755G>C , LRG_214t2:c.4755G>C	NP_001035957.1:p.Lys1585Asn
XM_005257983.1:c.4755G>C	XP_005258040.1:p.Lys1585Asn
XM_005257984.1:c.4692G>C	XP_005258041.1:p.Lys1564Asn
XM_006721922.1:c.4785G>C	XP_006721985.1:p.Lys1595Asn
XM_006721923.2:c.4746G>C	XP_006721986.1:p.Lys1582Asn
XM_006721924.1:c.4785G>C	XP_006721987.1:p.Lys1595Asn
XM_006721925.1:c.4722G>C	XP_006721988.1:p.Lys1574Asn
XM_006721926.2:c.4785G>C	XP_006721989.1:p.Lys1595Asn
XM_006721927.1:c.4785G>C	XP_006721990.1:p.Lys1595Asn
XM_006721928.2:c.4785G>C	XP_006721991.1:p.Lys1595Asn
XM_011524852.1:c.4782G>C	XP_011523154.1:p.Lys1594Asn
XM_011524853.1:c.4746G>C	XP_011523155.1:p.Lys1582Asn
XM_011524854.1:c.4746G>C	XP_011523156.1:p.Lys1582Asn
XM_011524855.1:c.4746G>C	XP_011523157.1:p.Lys1582Asn
XM_011524856.1:c.4746G>C	XP_011523158.1:p.Lys1582Asn
XM_011524857.1:c.4785G>C	XP_011523159.1:p.Lys1595Asn
NM_001042492.3:c.4755G>C MANE Select	NP_001035957.1:p.Lys1585Asn