Canonical Allele Identifier: CA499232923

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29652856C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325838C>A , CM000679.2:g.31325838C>A	GRCh38
NC_000017.10:g.29652856C>A , CM000679.1:g.29652856C>A	GRCh37
NC_000017.9:g.26676982C>A	NCBI36
NG_009018.1:g.235862C>A , LRG_214:g.235862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1042C>A	ENSP00000492721.2:n.1042C>A
ENST00000696138.1:c.4836C>A	ENSP00000512431.1:p.Ile1612=
ENST00000684826.1:c.-583C>A	ENSP00000509994.1:n.-583C>A
ENST00000687027.1:c.-650C>A	ENSP00000508715.1:n.-650C>A
ENST00000687863.1:n.1499C>A
ENST00000691014.1:c.4884C>A	ENSP00000510595.1:p.Ile1628=
ENST00000693617.1:c.-583C>A	ENSP00000510031.1:n.-583C>A
ENST00000358273.9:c.4854C>A MANE Select	ENSP00000351015.4:p.Ile1618=
ENST00000356175.7:c.4791C>A	ENSP00000348498.3:p.Ile1597=
ENST00000358273.8:c.4854C>A	ENSP00000351015.4:p.Ile1618=
ENST00000456735.6:c.3789C>A	ENSP00000389907.2:p.Ile1263=
ENST00000493220.5:n.3327C>A
ENST00000579081.5:c.4990C>A	ENSP00000462408.1:n.4990C>A
ENST00000581113.6:n.171C>A
NM_000267.3:c.4791C>A , LRG_214t1:c.4791C>A	NP_000258.1:p.Ile1597=
NM_001042492.2:c.4854C>A , LRG_214t2:c.4854C>A	NP_001035957.1:p.Ile1618=
XM_005257983.1:c.4854C>A	XP_005258040.1:p.Ile1618=
XM_005257984.1:c.4791C>A	XP_005258041.1:p.Ile1597=
XM_006721922.1:c.4884C>A	XP_006721985.1:p.Ile1628=
XM_006721923.2:c.4845C>A	XP_006721986.1:p.Ile1615=
XM_006721924.1:c.4884C>A	XP_006721987.1:p.Ile1628=
XM_006721925.1:c.4821C>A	XP_006721988.1:p.Ile1607=
XM_006721926.2:c.4884C>A	XP_006721989.1:p.Ile1628=
XM_006721927.1:c.4884C>A	XP_006721990.1:p.Ile1628=
XM_011524852.1:c.4881C>A	XP_011523154.1:p.Ile1627=
XM_011524853.1:c.4845C>A	XP_011523155.1:p.Ile1615=
XM_011524854.1:c.4845C>A	XP_011523156.1:p.Ile1615=
XM_011524855.1:c.4845C>A	XP_011523157.1:p.Ile1615=
XM_011524856.1:c.4845C>A	XP_011523158.1:p.Ile1615=
XM_011524857.1:c.4884C>A	XP_011523159.1:p.Ile1628=
NM_001042492.3:c.4854C>A MANE Select	NP_001035957.1:p.Ile1618=