Canonical Allele Identifier: CA399015784

Gene: NF1

Linked Data

• ClinVar Variation Id: 690368
• ClinVar RCV Id: RCV000851298 ; RCV001858484
• dbSNP Id: rs1597851489
• COSMIC: COSM5766195
• MyVariant Identifiers: chr17:g.29670150A>T (hg19) ; chr17:g.31343132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343132A>T , CM000679.2:g.31343132A>T	GRCh38
NC_000017.10:g.29670150A>T , CM000679.1:g.29670150A>T	GRCh37
NC_000017.9:g.26694276A>T	NCBI36
NG_009018.1:g.253156A>T , LRG_214:g.253156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7168A>T	ENSP00000512431.1:p.Lys2390Ter
ENST00000684826.1:c.1750A>T	ENSP00000509994.1:p.Lys584Ter
ENST00000687027.1:c.1342A>T	ENSP00000508715.1:p.Lys448Ter
ENST00000687863.1:n.3831A>T
ENST00000689464.1:c.125A>T
ENST00000691014.1:c.7216A>T	ENSP00000510595.1:p.Lys2406Ter
ENST00000693617.1:c.1750A>T	ENSP00000510031.1:p.Lys584Ter
ENST00000358273.9:c.7186A>T MANE Select	ENSP00000351015.4:p.Lys2396Ter
ENST00000356175.7:c.7123A>T	ENSP00000348498.3:p.Lys2375Ter
ENST00000358273.8:c.7186A>T	ENSP00000351015.4:p.Lys2396Ter
ENST00000456735.6:c.6121A>T	ENSP00000389907.2:p.Lys2041Ter
ENST00000471572.6:c.569A>T
ENST00000579081.5:c.7322A>T	ENSP00000462408.1:n.7322A>T
ENST00000581790.5:c.329A>T
ENST00000582892.1:n.428A>T
NM_000267.3:c.7123A>T , LRG_214t1:c.7123A>T	NP_000258.1:p.Lys2375Ter
NM_001042492.2:c.7186A>T , LRG_214t2:c.7186A>T	NP_001035957.1:p.Lys2396Ter
XM_005257983.1:c.7186A>T	XP_005258040.1:p.Lys2396Ter
XM_005257984.1:c.7123A>T	XP_005258041.1:p.Lys2375Ter
XM_006721922.1:c.7216A>T	XP_006721985.1:p.Lys2406Ter
XM_006721923.2:c.7177A>T	XP_006721986.1:p.Lys2393Ter
XM_006721924.1:c.7216A>T	XP_006721987.1:p.Lys2406Ter
XM_006721925.1:c.7153A>T	XP_006721988.1:p.Lys2385Ter
XM_006721926.2:c.7216A>T	XP_006721989.1:p.Lys2406Ter
XM_006721927.1:c.7216A>T	XP_006721990.1:p.Lys2406Ter
XM_011524852.1:c.7213A>T	XP_011523154.1:p.Lys2405Ter
XM_011524853.1:c.7177A>T	XP_011523155.1:p.Lys2393Ter
XM_011524854.1:c.7177A>T	XP_011523156.1:p.Lys2393Ter
XM_011524855.1:c.7177A>T	XP_011523157.1:p.Lys2393Ter
XM_011524856.1:c.7177A>T	XP_011523158.1:p.Lys2393Ter
XM_011524857.1:c.7216A>T	XP_011523159.1:p.Lys2406Ter
NM_001042492.3:c.7186A>T MANE Select	NP_001035957.1:p.Lys2396Ter