Canonical Allele Identifier: CA188027

Gene: NF1

Linked Data

• ClinVar Variation Id: 184165
• ClinVar RCV Id: RCV000163341 ; RCV000273660 ; RCV000401489 ; RCV000314078 ; RCV000371061
• dbSNP Id: rs786201310
• gnomAD v4: 17-31349176-C-T
• MyVariant Identifiers: chr17:g.29676194C>T (hg19) ; chr17:g.31349176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31349176C>T , CM000679.2:g.31349176C>T	GRCh38
NC_000017.10:g.29676194C>T , CM000679.1:g.29676194C>T	GRCh37
NC_000017.9:g.26700320C>T	NCBI36
NG_009018.1:g.259200C>T , LRG_214:g.259200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7228C>T	ENSP00000512431.1:p.Leu2410=
ENST00000684826.1:c.1810C>T	ENSP00000509994.1:p.Leu604=
ENST00000687027.1:c.1402C>T	ENSP00000508715.1:p.Leu468=
ENST00000687863.1:n.3891C>T
ENST00000689464.1:c.296C>T
ENST00000691014.1:c.7276C>T	ENSP00000510595.1:p.Leu2426=
ENST00000693617.1:c.1810C>T	ENSP00000510031.1:p.Leu604=
ENST00000358273.9:c.7246C>T MANE Select	ENSP00000351015.4:p.Leu2416=
ENST00000356175.7:c.7183C>T	ENSP00000348498.3:p.Leu2395=
ENST00000358273.8:c.7246C>T	ENSP00000351015.4:p.Leu2416=
ENST00000456735.6:c.6181C>T	ENSP00000389907.2:p.Leu2061=
ENST00000471572.6:c.629C>T
ENST00000579081.5:c.7382C>T	ENSP00000462408.1:n.7382C>T
ENST00000581790.5:c.389C>T
NM_000267.3:c.7183C>T , LRG_214t1:c.7183C>T	NP_000258.1:p.Leu2395=
NM_001042492.2:c.7246C>T , LRG_214t2:c.7246C>T	NP_001035957.1:p.Leu2416=
XM_005257983.1:c.7246C>T	XP_005258040.1:p.Leu2416=
XM_005257984.1:c.7183C>T	XP_005258041.1:p.Leu2395=
XM_006721922.1:c.7276C>T	XP_006721985.1:p.Leu2426=
XM_006721923.2:c.7237C>T	XP_006721986.1:p.Leu2413=
XM_006721924.1:c.7276C>T	XP_006721987.1:p.Leu2426=
XM_006721925.1:c.7213C>T	XP_006721988.1:p.Leu2405=
XM_006721926.2:c.7276C>T	XP_006721989.1:p.Leu2426=
XM_006721927.1:c.7276C>T	XP_006721990.1:p.Leu2426=
XM_011524852.1:c.7273C>T	XP_011523154.1:p.Leu2425=
XM_011524853.1:c.7237C>T	XP_011523155.1:p.Leu2413=
XM_011524854.1:c.7237C>T	XP_011523156.1:p.Leu2413=
XM_011524855.1:c.7237C>T	XP_011523157.1:p.Leu2413=
XM_011524856.1:c.7237C>T	XP_011523158.1:p.Leu2413=
XM_011524857.1:c.7276C>T	XP_011523159.1:p.Leu2426=
NM_001042492.3:c.7246C>T MANE Select	NP_001035957.1:p.Leu2416=