Canonical Allele Identifier: CA2255615414
Community Standard Title: NM_001042492.3(NF1):c.4869G= (p.Leu1623=)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325853G= , CM000679.2:g.31325853G= GRCh38
NC_000017.10:g.29652871G= , CM000679.1:g.29652871G= GRCh37
NC_000017.9:g.26676997G= NCBI36
NG_009018.1:g.235877G= , LRG_214:g.235877G=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4869G= MANE Select NP_001035957.1:p.Leu1623=
ENST00000358273.9:c.4869G= MANE Select ENSP00000351015.4:p.Leu1623=
NM_000267.3:c.4806G= , LRG_214t1:c.4806G= NP_000258.1:p.Leu1602=
NM_001042492.2:c.4869G= , LRG_214t2:c.4869G= NP_001035957.1:p.Leu1623=
ENST00000356175.7:c.4806G= ENSP00000348498.3:p.Leu1602=
ENST00000358273.8:c.4869G= ENSP00000351015.4:p.Leu1623=
ENST00000456735.6:c.3804G= ENSP00000389907.2:p.Leu1268=
ENST00000493220.5:n.3342G=
ENST00000579081.5:c.5005G= ENSP00000462408.1:n.5005G=
ENST00000581113.6:n.186G=
ENST00000581113.7:c.1057G= ENSP00000492721.2:n.1057G=
ENST00000684826.1:c.-568G= ENSP00000509994.1:n.-568G=
ENST00000687027.1:c.-635G= ENSP00000508715.1:n.-635G=
ENST00000687863.1:n.1514G=
ENST00000691014.1:c.4899G= ENSP00000510595.1:p.Leu1633=
ENST00000693617.1:c.-568G= ENSP00000510031.1:n.-568G=
ENST00000696138.1:c.4851G= ENSP00000512431.1:p.Leu1617=
XM_005257983.1:c.4869G= XP_005258040.1:p.Leu1623=
XM_005257984.1:c.4806G= XP_005258041.1:p.Leu1602=
XM_006721922.1:c.4899G= XP_006721985.1:p.Leu1633=
XM_006721923.2:c.4860G= XP_006721986.1:p.Leu1620=
XM_006721924.1:c.4899G= XP_006721987.1:p.Leu1633=
XM_006721925.1:c.4836G= XP_006721988.1:p.Leu1612=
XM_006721926.2:c.4899G= XP_006721989.1:p.Leu1633=
XM_006721927.1:c.4899G= XP_006721990.1:p.Leu1633=
XM_011524852.1:c.4896G= XP_011523154.1:p.Leu1632=
XM_011524853.1:c.4860G= XP_011523155.1:p.Leu1620=
XM_011524854.1:c.4860G= XP_011523156.1:p.Leu1620=
XM_011524855.1:c.4860G= XP_011523157.1:p.Leu1620=
XM_011524856.1:c.4860G= XP_011523158.1:p.Leu1620=
XM_011524857.1:c.4899G= XP_011523159.1:p.Leu1633=