Canonical Allele Identifier: CA399010509

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657507A>C (hg19) ; chr17:g.31330489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330489A>C , CM000679.2:g.31330489A>C	GRCh38
NC_000017.10:g.29657507A>C , CM000679.1:g.29657507A>C	GRCh37
NC_000017.9:g.26681633A>C	NCBI36
NG_009018.1:g.240513A>C , LRG_214:g.240513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1991A>C	ENSP00000492721.2:n.1991A>C
ENST00000696138.1:c.5785A>C	ENSP00000512431.1:p.Ser1929Arg
ENST00000684826.1:c.367A>C	ENSP00000509994.1:p.Ser123Arg
ENST00000687027.1:c.-42A>C	ENSP00000508715.1:n.-42A>C
ENST00000687863.1:n.2448A>C
ENST00000691014.1:c.5833A>C	ENSP00000510595.1:p.Ser1945Arg
ENST00000693617.1:c.367A>C	ENSP00000510031.1:p.Ser123Arg
ENST00000358273.9:c.5803A>C MANE Select	ENSP00000351015.4:p.Ser1935Arg
ENST00000356175.7:c.5740A>C	ENSP00000348498.3:p.Ser1914Arg
ENST00000358273.8:c.5803A>C	ENSP00000351015.4:p.Ser1935Arg
ENST00000456735.6:c.4738A>C	ENSP00000389907.2:p.Ser1580Arg
ENST00000479536.2:c.161A>C
ENST00000493220.5:n.4276A>C
ENST00000579081.5:c.5939A>C	ENSP00000462408.1:n.5939A>C
ENST00000581113.6:n.1120A>C
NM_000267.3:c.5740A>C , LRG_214t1:c.5740A>C	NP_000258.1:p.Ser1914Arg
NM_001042492.2:c.5803A>C , LRG_214t2:c.5803A>C	NP_001035957.1:p.Ser1935Arg
XM_005257983.1:c.5803A>C	XP_005258040.1:p.Ser1935Arg
XM_005257984.1:c.5740A>C	XP_005258041.1:p.Ser1914Arg
XM_006721922.1:c.5833A>C	XP_006721985.1:p.Ser1945Arg
XM_006721923.2:c.5794A>C	XP_006721986.1:p.Ser1932Arg
XM_006721924.1:c.5833A>C	XP_006721987.1:p.Ser1945Arg
XM_006721925.1:c.5770A>C	XP_006721988.1:p.Ser1924Arg
XM_006721926.2:c.5833A>C	XP_006721989.1:p.Ser1945Arg
XM_006721927.1:c.5833A>C	XP_006721990.1:p.Ser1945Arg
XM_011524852.1:c.5830A>C	XP_011523154.1:p.Ser1944Arg
XM_011524853.1:c.5794A>C	XP_011523155.1:p.Ser1932Arg
XM_011524854.1:c.5794A>C	XP_011523156.1:p.Ser1932Arg
XM_011524855.1:c.5794A>C	XP_011523157.1:p.Ser1932Arg
XM_011524856.1:c.5794A>C	XP_011523158.1:p.Ser1932Arg
XM_011524857.1:c.5833A>C	XP_011523159.1:p.Ser1945Arg
NM_001042492.3:c.5803A>C MANE Select	NP_001035957.1:p.Ser1935Arg