Canonical Allele Identifier: CA399001279

Gene: NF1

Linked Data

• ClinVar Variation Id: 1071847
• ClinVar RCV Id: RCV001384390
• dbSNP Id: rs2151470201
• MyVariant Identifiers: chr17:g.29592304C>A (hg19) ; chr17:g.31265286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265286C>A , CM000679.2:g.31265286C>A	GRCh38
NC_000017.10:g.29592304C>A , CM000679.1:g.29592304C>A	GRCh37
NC_000017.9:g.26616430C>A	NCBI36
NG_009018.1:g.175310C>A , LRG_214:g.175310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.584C>A	ENSP00000492721.2:n.584C>A
ENST00000696138.1:c.4764C>A	ENSP00000512431.1:p.Tyr1588Ter
ENST00000696140.1:n.888C>A
ENST00000696141.1:c.773C>A
ENST00000687863.1:n.1427C>A
ENST00000691014.1:c.4812C>A	ENSP00000510595.1:p.Tyr1604Ter
ENST00000358273.9:c.4782C>A MANE Select	ENSP00000351015.4:p.Tyr1594Ter
ENST00000356175.7:c.4719C>A	ENSP00000348498.3:p.Tyr1573Ter
ENST00000358273.8:c.4782C>A	ENSP00000351015.4:p.Tyr1594Ter
ENST00000456735.6:c.3717C>A	ENSP00000389907.2:p.Tyr1239Ter
ENST00000493220.5:n.3255C>A
ENST00000579081.5:c.4821C>A	ENSP00000462408.1:p.Tyr1607Ter
NM_000267.3:c.4719C>A , LRG_214t1:c.4719C>A	NP_000258.1:p.Tyr1573Ter
NM_001042492.2:c.4782C>A , LRG_214t2:c.4782C>A	NP_001035957.1:p.Tyr1594Ter
XM_005257983.1:c.4782C>A	XP_005258040.1:p.Tyr1594Ter
XM_005257984.1:c.4719C>A	XP_005258041.1:p.Tyr1573Ter
XM_006721922.1:c.4812C>A	XP_006721985.1:p.Tyr1604Ter
XM_006721923.2:c.4773C>A	XP_006721986.1:p.Tyr1591Ter
XM_006721924.1:c.4812C>A	XP_006721987.1:p.Tyr1604Ter
XM_006721925.1:c.4749C>A	XP_006721988.1:p.Tyr1583Ter
XM_006721926.2:c.4812C>A	XP_006721989.1:p.Tyr1604Ter
XM_006721927.1:c.4812C>A	XP_006721990.1:p.Tyr1604Ter
XM_006721928.2:c.4812C>A	XP_006721991.1:p.Tyr1604Ter
XM_011524852.1:c.4809C>A	XP_011523154.1:p.Tyr1603Ter
XM_011524853.1:c.4773C>A	XP_011523155.1:p.Tyr1591Ter
XM_011524854.1:c.4773C>A	XP_011523156.1:p.Tyr1591Ter
XM_011524855.1:c.4773C>A	XP_011523157.1:p.Tyr1591Ter
XM_011524856.1:c.4773C>A	XP_011523158.1:p.Tyr1591Ter
XM_011524857.1:c.4812C>A	XP_011523159.1:p.Tyr1604Ter
NM_001042492.3:c.4782C>A MANE Select	NP_001035957.1:p.Tyr1594Ter