Canonical Allele Identifier: CA398990692

Gene: NF1

Linked Data

• ClinVar Variation Id: 484142
• ClinVar RCV Id: RCV000687185 ; RCV001528969 ; RCV002483534 ; RCV002317302
• dbSNP Id: rs1482085668
• gnomAD v2: 17-29560217-C-T
• gnomAD v3: 17-31233199-C-T
• gnomAD v4: 17-31233199-C-T
• MyVariant Identifiers: chr17:g.29560217C>T (hg19) ; chr17:g.31233199C>T (hg38)
• PubMed: PMID:23656349

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233199C>T , CM000679.2:g.31233199C>T	GRCh38
NC_000017.10:g.29560217C>T , CM000679.1:g.29560217C>T	GRCh37
NC_000017.9:g.26584343C>T	NCBI36
NG_009018.1:g.143223C>T , LRG_214:g.143223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3739C>T	ENSP00000512431.1:p.Pro1247Ser
ENST00000696139.1:c.1039C>T	ENSP00000512432.1:p.Pro347Ser
ENST00000691014.1:c.3724C>T	ENSP00000510595.1:p.Pro1242Ser
ENST00000693210.1:n.420C>T
ENST00000358273.9:c.3694C>T MANE Select	ENSP00000351015.4:p.Pro1232Ser
ENST00000356175.7:c.3694C>T	ENSP00000348498.3:p.Pro1232Ser
ENST00000358273.8:c.3694C>T	ENSP00000351015.4:p.Pro1232Ser
ENST00000456735.6:c.2692C>T	ENSP00000389907.2:p.Pro898Ser
ENST00000466819.5:c.170C>T
ENST00000479614.1:c.170C>T
ENST00000493220.5:n.2230C>T
ENST00000495910.6:c.3469C>T
ENST00000579081.5:c.3796C>T	ENSP00000462408.1:p.Pro1266Ser
NM_000267.3:c.3694C>T , LRG_214t1:c.3694C>T	NP_000258.1:p.Pro1232Ser
NM_001042492.2:c.3694C>T , LRG_214t2:c.3694C>T	NP_001035957.1:p.Pro1232Ser
XM_005257983.1:c.3694C>T	XP_005258040.1:p.Pro1232Ser
XM_005257984.1:c.3694C>T	XP_005258041.1:p.Pro1232Ser
XM_006721922.1:c.3724C>T	XP_006721985.1:p.Pro1242Ser
XM_006721923.2:c.3685C>T	XP_006721986.1:p.Pro1229Ser
XM_006721924.1:c.3724C>T	XP_006721987.1:p.Pro1242Ser
XM_006721925.1:c.3724C>T	XP_006721988.1:p.Pro1242Ser
XM_006721926.2:c.3724C>T	XP_006721989.1:p.Pro1242Ser
XM_006721927.1:c.3724C>T	XP_006721990.1:p.Pro1242Ser
XM_006721928.2:c.3724C>T	XP_006721991.1:p.Pro1242Ser
XM_011524852.1:c.3721C>T	XP_011523154.1:p.Pro1241Ser
XM_011524853.1:c.3685C>T	XP_011523155.1:p.Pro1229Ser
XM_011524854.1:c.3685C>T	XP_011523156.1:p.Pro1229Ser
XM_011524855.1:c.3685C>T	XP_011523157.1:p.Pro1229Ser
XM_011524856.1:c.3685C>T	XP_011523158.1:p.Pro1229Ser
XM_011524857.1:c.3724C>T	XP_011523159.1:p.Pro1242Ser
NM_001042492.3:c.3694C>T MANE Select	NP_001035957.1:p.Pro1232Ser