Canonical Allele Identifier: CA398996719

Gene: NF1

Linked Data

• ClinVar Variation Id: 1368622
• ClinVar RCV Id: RCV001894698
• dbSNP Id: rs2066518753
• MyVariant Identifiers: chr17:g.29528065T>C (hg19) ; chr17:g.31201047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201047T>C , CM000679.2:g.31201047T>C	GRCh38
NC_000017.10:g.29528065T>C , CM000679.1:g.29528065T>C	GRCh37
NC_000017.9:g.26552191T>C	NCBI36
NG_009018.1:g.111071T>C , LRG_214:g.111071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1073T>C	ENSP00000512431.1:p.Phe358Ser
ENST00000686189.1:c.488T>C	ENSP00000509682.1:p.Phe163Ser
ENST00000688507.1:n.779T>C
ENST00000691014.1:c.1073T>C	ENSP00000510595.1:p.Phe358Ser
ENST00000692326.1:n.1356T>C
ENST00000358273.9:c.1073T>C MANE Select	ENSP00000351015.4:p.Phe358Ser
ENST00000356175.7:c.1073T>C	ENSP00000348498.3:p.Phe358Ser
ENST00000358273.8:c.1073T>C	ENSP00000351015.4:p.Phe358Ser
ENST00000431387.8:c.1073T>C	ENSP00000412921.4:p.Phe358Ser
ENST00000456735.6:c.71T>C	ENSP00000389907.2:p.Phe24Ser
ENST00000487476.5:n.1456T>C
ENST00000495910.6:c.848T>C
ENST00000579081.5:c.1175T>C	ENSP00000462408.1:p.Phe392Ser
NM_000267.3:c.1073T>C , LRG_214t1:c.1073T>C	NP_000258.1:p.Phe358Ser
NM_001042492.2:c.1073T>C , LRG_214t2:c.1073T>C	NP_001035957.1:p.Phe358Ser
NM_001128147.2:c.1073T>C	NP_001121619.1:p.Phe358Ser
XM_005257983.1:c.1073T>C	XP_005258040.1:p.Phe358Ser
XM_005257984.1:c.1073T>C	XP_005258041.1:p.Phe358Ser
XM_006721922.1:c.1073T>C	XP_006721985.1:p.Phe358Ser
XM_006721923.2:c.1034T>C	XP_006721986.1:p.Phe345Ser
XM_006721924.1:c.1073T>C	XP_006721987.1:p.Phe358Ser
XM_006721925.1:c.1073T>C	XP_006721988.1:p.Phe358Ser
XM_006721926.2:c.1073T>C	XP_006721989.1:p.Phe358Ser
XM_006721927.1:c.1073T>C	XP_006721990.1:p.Phe358Ser
XM_006721928.2:c.1073T>C	XP_006721991.1:p.Phe358Ser
XM_011524852.1:c.1073T>C	XP_011523154.1:p.Phe358Ser
XM_011524853.1:c.1034T>C	XP_011523155.1:p.Phe345Ser
XM_011524854.1:c.1034T>C	XP_011523156.1:p.Phe345Ser
XM_011524855.1:c.1034T>C	XP_011523157.1:p.Phe345Ser
XM_011524856.1:c.1034T>C	XP_011523158.1:p.Phe345Ser
XM_011524857.1:c.1073T>C	XP_011523159.1:p.Phe358Ser
NM_001042492.3:c.1073T>C MANE Select	NP_001035957.1:p.Phe358Ser
NM_001128147.3:c.1073T>C	NP_001121619.1:p.Phe358Ser