Canonical Allele Identifier: CA398999269

Gene: NF1

Linked Data

• dbSNP Id: rs1265291141
• MyVariant Identifiers: chr17:g.29587415C>A (hg19) ; chr17:g.31260397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260397C>A , CM000679.2:g.31260397C>A	GRCh38
NC_000017.10:g.29587415C>A , CM000679.1:g.29587415C>A	GRCh37
NC_000017.9:g.26611541C>A	NCBI36
NG_009018.1:g.170421C>A , LRG_214:g.170421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.247C>A	ENSP00000492721.2:p.Pro83Thr
ENST00000696138.1:c.4441C>A	ENSP00000512431.1:p.Pro1481Thr
ENST00000696140.1:n.565C>A
ENST00000696141.1:c.450C>A
ENST00000687863.1:n.1104C>A
ENST00000691014.1:c.4489C>A	ENSP00000510595.1:p.Pro1497Thr
ENST00000691649.1:n.1670C>A
ENST00000358273.9:c.4459C>A MANE Select	ENSP00000351015.4:p.Pro1487Thr
ENST00000356175.7:c.4396C>A	ENSP00000348498.3:p.Pro1466Thr
ENST00000358273.8:c.4459C>A	ENSP00000351015.4:p.Pro1487Thr
ENST00000456735.6:c.3394C>A	ENSP00000389907.2:p.Pro1132Thr
ENST00000466819.5:c.975C>A
ENST00000479614.1:c.912C>A
ENST00000493220.5:n.2932C>A
ENST00000579081.5:c.4498C>A	ENSP00000462408.1:p.Pro1500Thr
NM_000267.3:c.4396C>A , LRG_214t1:c.4396C>A	NP_000258.1:p.Pro1466Thr
NM_001042492.2:c.4459C>A , LRG_214t2:c.4459C>A	NP_001035957.1:p.Pro1487Thr
XM_005257983.1:c.4459C>A	XP_005258040.1:p.Pro1487Thr
XM_005257984.1:c.4396C>A	XP_005258041.1:p.Pro1466Thr
XM_006721922.1:c.4489C>A	XP_006721985.1:p.Pro1497Thr
XM_006721923.2:c.4450C>A	XP_006721986.1:p.Pro1484Thr
XM_006721924.1:c.4489C>A	XP_006721987.1:p.Pro1497Thr
XM_006721925.1:c.4426C>A	XP_006721988.1:p.Pro1476Thr
XM_006721926.2:c.4489C>A	XP_006721989.1:p.Pro1497Thr
XM_006721927.1:c.4489C>A	XP_006721990.1:p.Pro1497Thr
XM_006721928.2:c.4489C>A	XP_006721991.1:p.Pro1497Thr
XM_011524852.1:c.4486C>A	XP_011523154.1:p.Pro1496Thr
XM_011524853.1:c.4450C>A	XP_011523155.1:p.Pro1484Thr
XM_011524854.1:c.4450C>A	XP_011523156.1:p.Pro1484Thr
XM_011524855.1:c.4450C>A	XP_011523157.1:p.Pro1484Thr
XM_011524856.1:c.4450C>A	XP_011523158.1:p.Pro1484Thr
XM_011524857.1:c.4489C>A	XP_011523159.1:p.Pro1497Thr
NM_001042492.3:c.4459C>A MANE Select	NP_001035957.1:p.Pro1487Thr