Canonical Allele Identifier: CA10580358

Gene: NF1

Linked Data

• ClinVar Variation Id: 233083
• ClinVar RCV Id: RCV000213688 ; RCV002515692
• dbSNP Id: rs876660179
• gnomAD v4: 17-31330491-C-T
• MyVariant Identifiers: chr17:g.29657509C>T (hg19) ; chr17:g.31330491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330491C>T , CM000679.2:g.31330491C>T	GRCh38
NC_000017.10:g.29657509C>T , CM000679.1:g.29657509C>T	GRCh37
NC_000017.9:g.26681635C>T	NCBI36
NG_009018.1:g.240515C>T , LRG_214:g.240515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1993C>T	ENSP00000492721.2:n.1993C>T
ENST00000696138.1:c.5787C>T	ENSP00000512431.1:p.Ser1929=
ENST00000684826.1:c.369C>T	ENSP00000509994.1:p.Ser123=
ENST00000687027.1:c.-40C>T	ENSP00000508715.1:n.-40C>T
ENST00000687863.1:n.2450C>T
ENST00000691014.1:c.5835C>T	ENSP00000510595.1:p.Ser1945=
ENST00000693617.1:c.369C>T	ENSP00000510031.1:p.Ser123=
ENST00000358273.9:c.5805C>T MANE Select	ENSP00000351015.4:p.Ser1935=
ENST00000356175.7:c.5742C>T	ENSP00000348498.3:p.Ser1914=
ENST00000358273.8:c.5805C>T	ENSP00000351015.4:p.Ser1935=
ENST00000456735.6:c.4740C>T	ENSP00000389907.2:p.Ser1580=
ENST00000479536.2:c.163C>T
ENST00000493220.5:n.4278C>T
ENST00000579081.5:c.5941C>T	ENSP00000462408.1:n.5941C>T
ENST00000581113.6:n.1122C>T
NM_000267.3:c.5742C>T , LRG_214t1:c.5742C>T	NP_000258.1:p.Ser1914=
NM_001042492.2:c.5805C>T , LRG_214t2:c.5805C>T	NP_001035957.1:p.Ser1935=
XM_005257983.1:c.5805C>T	XP_005258040.1:p.Ser1935=
XM_005257984.1:c.5742C>T	XP_005258041.1:p.Ser1914=
XM_006721922.1:c.5835C>T	XP_006721985.1:p.Ser1945=
XM_006721923.2:c.5796C>T	XP_006721986.1:p.Ser1932=
XM_006721924.1:c.5835C>T	XP_006721987.1:p.Ser1945=
XM_006721925.1:c.5772C>T	XP_006721988.1:p.Ser1924=
XM_006721926.2:c.5835C>T	XP_006721989.1:p.Ser1945=
XM_006721927.1:c.5835C>T	XP_006721990.1:p.Ser1945=
XM_011524852.1:c.5832C>T	XP_011523154.1:p.Ser1944=
XM_011524853.1:c.5796C>T	XP_011523155.1:p.Ser1932=
XM_011524854.1:c.5796C>T	XP_011523156.1:p.Ser1932=
XM_011524855.1:c.5796C>T	XP_011523157.1:p.Ser1932=
XM_011524856.1:c.5796C>T	XP_011523158.1:p.Ser1932=
XM_011524857.1:c.5835C>T	XP_011523159.1:p.Ser1945=
NM_001042492.3:c.5805C>T MANE Select	NP_001035957.1:p.Ser1935=