Canonical Allele Identifier: CA399001228

Gene: NF1

Linked Data

• ClinVar Variation Id: 2629694
• ClinVar RCV Id: RCV004550573
• MyVariant Identifiers: chr17:g.29592282T>C (hg19) ; chr17:g.31265264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265264T>C , CM000679.2:g.31265264T>C	GRCh38
NC_000017.10:g.29592282T>C , CM000679.1:g.29592282T>C	GRCh37
NC_000017.9:g.26616408T>C	NCBI36
NG_009018.1:g.175288T>C , LRG_214:g.175288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.562T>C	ENSP00000492721.2:n.562T>C
ENST00000696138.1:c.4742T>C	ENSP00000512431.1:p.Leu1581Ser
ENST00000696140.1:n.866T>C
ENST00000696141.1:c.751T>C
ENST00000687863.1:n.1405T>C
ENST00000691014.1:c.4790T>C	ENSP00000510595.1:p.Leu1597Ser
ENST00000358273.9:c.4760T>C MANE Select	ENSP00000351015.4:p.Leu1587Ser
ENST00000356175.7:c.4697T>C	ENSP00000348498.3:p.Leu1566Ser
ENST00000358273.8:c.4760T>C	ENSP00000351015.4:p.Leu1587Ser
ENST00000456735.6:c.3695T>C	ENSP00000389907.2:p.Leu1232Ser
ENST00000493220.5:n.3233T>C
ENST00000579081.5:c.4799T>C	ENSP00000462408.1:p.Leu1600Ser
NM_000267.3:c.4697T>C , LRG_214t1:c.4697T>C	NP_000258.1:p.Leu1566Ser
NM_001042492.2:c.4760T>C , LRG_214t2:c.4760T>C	NP_001035957.1:p.Leu1587Ser
XM_005257983.1:c.4760T>C	XP_005258040.1:p.Leu1587Ser
XM_005257984.1:c.4697T>C	XP_005258041.1:p.Leu1566Ser
XM_006721922.1:c.4790T>C	XP_006721985.1:p.Leu1597Ser
XM_006721923.2:c.4751T>C	XP_006721986.1:p.Leu1584Ser
XM_006721924.1:c.4790T>C	XP_006721987.1:p.Leu1597Ser
XM_006721925.1:c.4727T>C	XP_006721988.1:p.Leu1576Ser
XM_006721926.2:c.4790T>C	XP_006721989.1:p.Leu1597Ser
XM_006721927.1:c.4790T>C	XP_006721990.1:p.Leu1597Ser
XM_006721928.2:c.4790T>C	XP_006721991.1:p.Leu1597Ser
XM_011524852.1:c.4787T>C	XP_011523154.1:p.Leu1596Ser
XM_011524853.1:c.4751T>C	XP_011523155.1:p.Leu1584Ser
XM_011524854.1:c.4751T>C	XP_011523156.1:p.Leu1584Ser
XM_011524855.1:c.4751T>C	XP_011523157.1:p.Leu1584Ser
XM_011524856.1:c.4751T>C	XP_011523158.1:p.Leu1584Ser
XM_011524857.1:c.4790T>C	XP_011523159.1:p.Leu1597Ser
NM_001042492.3:c.4760T>C MANE Select	NP_001035957.1:p.Leu1587Ser