Canonical Allele Identifier: CA399000396

Gene: NF1

Linked Data

• dbSNP Id: rs1597748857
• MyVariant Identifiers: chr17:g.29588809C>A (hg19) ; chr17:g.31261791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261791C>A , CM000679.2:g.31261791C>A	GRCh38
NC_000017.10:g.29588809C>A , CM000679.1:g.29588809C>A	GRCh37
NC_000017.9:g.26612935C>A	NCBI36
NG_009018.1:g.171815C>A , LRG_214:g.171815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.460C>A	ENSP00000492721.2:p.Leu154Met
ENST00000696138.1:c.4640C>A	ENSP00000512431.1:p.Pro1547His
ENST00000696140.1:n.764C>A
ENST00000696141.1:c.649C>A
ENST00000687863.1:n.1303C>A
ENST00000691014.1:c.4688C>A	ENSP00000510595.1:p.Pro1563His
ENST00000358273.9:c.4658C>A MANE Select	ENSP00000351015.4:p.Pro1553His
ENST00000356175.7:c.4595C>A	ENSP00000348498.3:p.Pro1532His
ENST00000358273.8:c.4658C>A	ENSP00000351015.4:p.Pro1553His
ENST00000456735.6:c.3593C>A	ENSP00000389907.2:p.Pro1198His
ENST00000466819.5:c.1174C>A
ENST00000479614.1:c.1111C>A
ENST00000493220.5:n.3131C>A
ENST00000579081.5:c.4697C>A	ENSP00000462408.1:p.Pro1566His
NM_000267.3:c.4595C>A , LRG_214t1:c.4595C>A	NP_000258.1:p.Pro1532His
NM_001042492.2:c.4658C>A , LRG_214t2:c.4658C>A	NP_001035957.1:p.Pro1553His
XM_005257983.1:c.4658C>A	XP_005258040.1:p.Pro1553His
XM_005257984.1:c.4595C>A	XP_005258041.1:p.Pro1532His
XM_006721922.1:c.4688C>A	XP_006721985.1:p.Pro1563His
XM_006721923.2:c.4649C>A	XP_006721986.1:p.Pro1550His
XM_006721924.1:c.4688C>A	XP_006721987.1:p.Pro1563His
XM_006721925.1:c.4625C>A	XP_006721988.1:p.Pro1542His
XM_006721926.2:c.4688C>A	XP_006721989.1:p.Pro1563His
XM_006721927.1:c.4688C>A	XP_006721990.1:p.Pro1563His
XM_006721928.2:c.4688C>A	XP_006721991.1:p.Pro1563His
XM_011524852.1:c.4685C>A	XP_011523154.1:p.Pro1562His
XM_011524853.1:c.4649C>A	XP_011523155.1:p.Pro1550His
XM_011524854.1:c.4649C>A	XP_011523156.1:p.Pro1550His
XM_011524855.1:c.4649C>A	XP_011523157.1:p.Pro1550His
XM_011524856.1:c.4649C>A	XP_011523158.1:p.Pro1550His
XM_011524857.1:c.4688C>A	XP_011523159.1:p.Pro1563His
NM_001042492.3:c.4658C>A MANE Select	NP_001035957.1:p.Pro1553His