Canonical Allele Identifier: CA289388306

Gene: NF1

Linked Data

• ClinVar Variation Id: 485932
• ClinVar RCV Id: RCV000573877 ; RCV000632445 ; RCV002367973
• dbSNP Id: rs144287929
• gnomAD v2: 17-29665739-A-C
• gnomAD v3: 17-31338721-A-C
• gnomAD v4: 17-31338721-A-C
• MyVariant Identifiers: chr17:g.29665739A>C (hg19) ; chr17:g.31338721A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338721A>C , CM000679.2:g.31338721A>C	GRCh38
NC_000017.10:g.29665739A>C , CM000679.1:g.29665739A>C	GRCh37
NC_000017.9:g.26689865A>C	NCBI36
NG_009018.1:g.248745A>C , LRG_214:g.248745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6819A>C	ENSP00000512431.1:p.Leu2273Phe
ENST00000684826.1:c.1401A>C	ENSP00000509994.1:p.Leu467Phe
ENST00000684998.1:n.2659A>C
ENST00000687027.1:c.993A>C	ENSP00000508715.1:p.Leu331Phe
ENST00000687863.1:n.3482A>C
ENST00000691014.1:c.6867A>C	ENSP00000510595.1:p.Leu2289Phe
ENST00000693617.1:c.1401A>C	ENSP00000510031.1:p.Leu467Phe
ENST00000358273.9:c.6837A>C MANE Select	ENSP00000351015.4:p.Leu2279Phe
ENST00000356175.7:c.6774A>C	ENSP00000348498.3:p.Leu2258Phe
ENST00000358273.8:c.6837A>C	ENSP00000351015.4:p.Leu2279Phe
ENST00000456735.6:c.5772A>C	ENSP00000389907.2:p.Leu1924Phe
ENST00000471572.6:c.220A>C
ENST00000579081.5:c.6973A>C	ENSP00000462408.1:n.6973A>C
ENST00000581790.5:c.64+841A>C
ENST00000584328.1:n.251A>C
NM_000267.3:c.6774A>C , LRG_214t1:c.6774A>C	NP_000258.1:p.Leu2258Phe
NM_001042492.2:c.6837A>C , LRG_214t2:c.6837A>C	NP_001035957.1:p.Leu2279Phe
XM_005257983.1:c.6837A>C	XP_005258040.1:p.Leu2279Phe
XM_005257984.1:c.6774A>C	XP_005258041.1:p.Leu2258Phe
XM_006721922.1:c.6867A>C	XP_006721985.1:p.Leu2289Phe
XM_006721923.2:c.6828A>C	XP_006721986.1:p.Leu2276Phe
XM_006721924.1:c.6867A>C	XP_006721987.1:p.Leu2289Phe
XM_006721925.1:c.6804A>C	XP_006721988.1:p.Leu2268Phe
XM_006721926.2:c.6867A>C	XP_006721989.1:p.Leu2289Phe
XM_006721927.1:c.6867A>C	XP_006721990.1:p.Leu2289Phe
XM_011524852.1:c.6864A>C	XP_011523154.1:p.Leu2288Phe
XM_011524853.1:c.6828A>C	XP_011523155.1:p.Leu2276Phe
XM_011524854.1:c.6828A>C	XP_011523156.1:p.Leu2276Phe
XM_011524855.1:c.6828A>C	XP_011523157.1:p.Leu2276Phe
XM_011524856.1:c.6828A>C	XP_011523158.1:p.Leu2276Phe
XM_011524857.1:c.6867A>C	XP_011523159.1:p.Leu2289Phe
NM_001042492.3:c.6837A>C MANE Select	NP_001035957.1:p.Leu2279Phe