Canonical Allele Identifier: CA188446

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233141C>A , CM000679.2:g.31233141C>A	GRCh38
NC_000017.10:g.29560159C>A , CM000679.1:g.29560159C>A	GRCh37
NC_000017.9:g.26584285C>A	NCBI36
NG_009018.1:g.143165C>A , LRG_214:g.143165C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.3636C>A MANE Select	NP_001035957.1:p.Val1212=
ENST00000358273.9:c.3636C>A MANE Select	ENSP00000351015.4:p.Val1212=
NM_000267.3:c.3636C>A , LRG_214t1:c.3636C>A	NP_000258.1:p.Val1212=
NM_001042492.2:c.3636C>A , LRG_214t2:c.3636C>A	NP_001035957.1:p.Val1212=
ENST00000356175.7:c.3636C>A	ENSP00000348498.3:p.Val1212=
ENST00000358273.8:c.3636C>A	ENSP00000351015.4:p.Val1212=
ENST00000456735.6:c.2634C>A	ENSP00000389907.2:p.Val878=
ENST00000466819.5:c.112C>A
ENST00000479614.1:c.112C>A
ENST00000493220.5:n.2172C>A
ENST00000495910.6:c.3411C>A
ENST00000579081.5:c.3738C>A	ENSP00000462408.1:p.Val1246=
ENST00000691014.1:c.3666C>A	ENSP00000510595.1:p.Val1222=
ENST00000693210.1:n.362C>A
ENST00000696138.1:c.3681C>A	ENSP00000512431.1:p.Val1227=
ENST00000696139.1:c.981C>A	ENSP00000512432.1:p.Val327=
XM_005257983.1:c.3636C>A	XP_005258040.1:p.Val1212=
XM_005257984.1:c.3636C>A	XP_005258041.1:p.Val1212=
XM_006721922.1:c.3666C>A	XP_006721985.1:p.Val1222=
XM_006721923.2:c.3627C>A	XP_006721986.1:p.Val1209=
XM_006721924.1:c.3666C>A	XP_006721987.1:p.Val1222=
XM_006721925.1:c.3666C>A	XP_006721988.1:p.Val1222=
XM_006721926.2:c.3666C>A	XP_006721989.1:p.Val1222=
XM_006721927.1:c.3666C>A	XP_006721990.1:p.Val1222=
XM_006721928.2:c.3666C>A	XP_006721991.1:p.Val1222=
XM_011524852.1:c.3663C>A	XP_011523154.1:p.Val1221=
XM_011524853.1:c.3627C>A	XP_011523155.1:p.Val1209=
XM_011524854.1:c.3627C>A	XP_011523156.1:p.Val1209=
XM_011524855.1:c.3627C>A	XP_011523157.1:p.Val1209=
XM_011524856.1:c.3627C>A	XP_011523158.1:p.Val1209=
XM_011524857.1:c.3666C>A	XP_011523159.1:p.Val1222=