Canonical Allele Identifier: CA499232922

Gene: NF1

Linked Data

• ClinVar Variation Id: 825173
• ClinVar RCV Id: RCV001405641 ; RCV002319372
• dbSNP Id: rs1268872486
• gnomAD v2: 17-29652856-C-T
• gnomAD v4: 17-31325838-C-T
• MyVariant Identifiers: chr17:g.29652856C>T (hg19) ; chr17:g.31325838C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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