Canonical Allele Identifier: CA399001354

Gene: NF1

Linked Data

• ClinVar Variation Id: 2699137
• ClinVar RCV Id: RCV003495553
• MyVariant Identifiers: chr17:g.29592339T>C (hg19) ; chr17:g.31265321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265321T>C , CM000679.2:g.31265321T>C	GRCh38
NC_000017.10:g.29592339T>C , CM000679.1:g.29592339T>C	GRCh37
NC_000017.9:g.26616465T>C	NCBI36
NG_009018.1:g.175345T>C , LRG_214:g.175345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.619T>C	ENSP00000492721.2:n.619T>C
ENST00000696138.1:c.4799T>C	ENSP00000512431.1:p.Phe1600Ser
ENST00000696140.1:n.923T>C
ENST00000696141.1:c.808T>C
ENST00000687863.1:n.1462T>C
ENST00000691014.1:c.4847T>C	ENSP00000510595.1:p.Phe1616Ser
ENST00000358273.9:c.4817T>C MANE Select	ENSP00000351015.4:p.Phe1606Ser
ENST00000356175.7:c.4754T>C	ENSP00000348498.3:p.Phe1585Ser
ENST00000358273.8:c.4817T>C	ENSP00000351015.4:p.Phe1606Ser
ENST00000456735.6:c.3752T>C	ENSP00000389907.2:p.Phe1251Ser
ENST00000493220.5:n.3290T>C
ENST00000579081.5:c.4856T>C	ENSP00000462408.1:p.Phe1619Ser
NM_000267.3:c.4754T>C , LRG_214t1:c.4754T>C	NP_000258.1:p.Phe1585Ser
NM_001042492.2:c.4817T>C , LRG_214t2:c.4817T>C	NP_001035957.1:p.Phe1606Ser
XM_005257983.1:c.4817T>C	XP_005258040.1:p.Phe1606Ser
XM_005257984.1:c.4754T>C	XP_005258041.1:p.Phe1585Ser
XM_006721922.1:c.4847T>C	XP_006721985.1:p.Phe1616Ser
XM_006721923.2:c.4808T>C	XP_006721986.1:p.Phe1603Ser
XM_006721924.1:c.4847T>C	XP_006721987.1:p.Phe1616Ser
XM_006721925.1:c.4784T>C	XP_006721988.1:p.Phe1595Ser
XM_006721926.2:c.4847T>C	XP_006721989.1:p.Phe1616Ser
XM_006721927.1:c.4847T>C	XP_006721990.1:p.Phe1616Ser
XM_006721928.2:c.4847T>C	XP_006721991.1:p.Phe1616Ser
XM_011524852.1:c.4844T>C	XP_011523154.1:p.Phe1615Ser
XM_011524853.1:c.4808T>C	XP_011523155.1:p.Phe1603Ser
XM_011524854.1:c.4808T>C	XP_011523156.1:p.Phe1603Ser
XM_011524855.1:c.4808T>C	XP_011523157.1:p.Phe1603Ser
XM_011524856.1:c.4808T>C	XP_011523158.1:p.Phe1603Ser
XM_011524857.1:c.4847T>C	XP_011523159.1:p.Phe1616Ser
NM_001042492.3:c.4817T>C MANE Select	NP_001035957.1:p.Phe1606Ser