Canonical Allele Identifier: CA8486399
Community Standard Title: NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31259056G>A , CM000679.2:g.31259056G>A GRCh38
NC_000017.10:g.29586074G>A , CM000679.1:g.29586074G>A GRCh37
NC_000017.9:g.26610200G>A NCBI36
NG_009018.1:g.169080G>A , LRG_214:g.169080G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4357G>A MANE Select NP_001035957.1:p.Val1453Ile
ENST00000358273.9:c.4357G>A MANE Select ENSP00000351015.4:p.Val1453Ile
NM_000267.3:c.4294G>A , LRG_214t1:c.4294G>A NP_000258.1:p.Val1432Ile
NM_001042492.2:c.4357G>A , LRG_214t2:c.4357G>A NP_001035957.1:p.Val1453Ile
ENST00000356175.7:c.4294G>A ENSP00000348498.3:p.Val1432Ile
ENST00000358273.8:c.4357G>A ENSP00000351015.4:p.Val1453Ile
ENST00000456735.6:c.3292G>A ENSP00000389907.2:p.Val1098Ile
ENST00000466819.5:c.873G>A
ENST00000479614.1:c.810G>A
ENST00000493220.5:n.2830G>A
ENST00000579081.5:c.4396G>A ENSP00000462408.1:p.Val1466Ile
ENST00000581113.7:c.145G>A ENSP00000492721.2:p.Val49Ile
ENST00000687863.1:n.1002G>A
ENST00000691014.1:c.4387G>A ENSP00000510595.1:p.Val1463Ile
ENST00000691649.1:n.329G>A
ENST00000696138.1:c.4339G>A ENSP00000512431.1:p.Val1447Ile
ENST00000696140.1:n.463G>A
ENST00000696141.1:c.348G>A
XM_005257983.1:c.4357G>A XP_005258040.1:p.Val1453Ile
XM_005257984.1:c.4294G>A XP_005258041.1:p.Val1432Ile
XM_006721922.1:c.4387G>A XP_006721985.1:p.Val1463Ile
XM_006721923.2:c.4348G>A XP_006721986.1:p.Val1450Ile
XM_006721924.1:c.4387G>A XP_006721987.1:p.Val1463Ile
XM_006721925.1:c.4324G>A XP_006721988.1:p.Val1442Ile
XM_006721926.2:c.4387G>A XP_006721989.1:p.Val1463Ile
XM_006721927.1:c.4387G>A XP_006721990.1:p.Val1463Ile
XM_006721928.2:c.4387G>A XP_006721991.1:p.Val1463Ile
XM_011524852.1:c.4384G>A XP_011523154.1:p.Val1462Ile
XM_011524853.1:c.4348G>A XP_011523155.1:p.Val1450Ile
XM_011524854.1:c.4348G>A XP_011523156.1:p.Val1450Ile
XM_011524855.1:c.4348G>A XP_011523157.1:p.Val1450Ile
XM_011524856.1:c.4348G>A XP_011523158.1:p.Val1450Ile
XM_011524857.1:c.4387G>A XP_011523159.1:p.Val1463Ile