Canonical Allele Identifier: CA399010440

Gene: NF1

Linked Data

• ClinVar Variation Id: 2833071
• ClinVar RCV Id: RCV003599405
• gnomAD v4: 17-31330459-G-C
• MyVariant Identifiers: chr17:g.29657477G>C (hg19) ; chr17:g.31330459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330459G>C , CM000679.2:g.31330459G>C	GRCh38
NC_000017.10:g.29657477G>C , CM000679.1:g.29657477G>C	GRCh37
NC_000017.9:g.26681603G>C	NCBI36
NG_009018.1:g.240483G>C , LRG_214:g.240483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1961G>C	ENSP00000492721.2:n.1961G>C
ENST00000696138.1:c.5755G>C	ENSP00000512431.1:p.Glu1919Gln
ENST00000684826.1:c.337G>C	ENSP00000509994.1:p.Glu113Gln
ENST00000687027.1:c.-72G>C	ENSP00000508715.1:n.-72G>C
ENST00000687863.1:n.2418G>C
ENST00000691014.1:c.5803G>C	ENSP00000510595.1:p.Glu1935Gln
ENST00000693617.1:c.337G>C	ENSP00000510031.1:p.Glu113Gln
ENST00000358273.9:c.5773G>C MANE Select	ENSP00000351015.4:p.Glu1925Gln
ENST00000356175.7:c.5710G>C	ENSP00000348498.3:p.Glu1904Gln
ENST00000358273.8:c.5773G>C	ENSP00000351015.4:p.Glu1925Gln
ENST00000456735.6:c.4708G>C	ENSP00000389907.2:p.Glu1570Gln
ENST00000479536.2:c.131G>C
ENST00000493220.5:n.4246G>C
ENST00000579081.5:c.5909G>C	ENSP00000462408.1:n.5909G>C
ENST00000581113.6:n.1090G>C
NM_000267.3:c.5710G>C , LRG_214t1:c.5710G>C	NP_000258.1:p.Glu1904Gln
NM_001042492.2:c.5773G>C , LRG_214t2:c.5773G>C	NP_001035957.1:p.Glu1925Gln
XM_005257983.1:c.5773G>C	XP_005258040.1:p.Glu1925Gln
XM_005257984.1:c.5710G>C	XP_005258041.1:p.Glu1904Gln
XM_006721922.1:c.5803G>C	XP_006721985.1:p.Glu1935Gln
XM_006721923.2:c.5764G>C	XP_006721986.1:p.Glu1922Gln
XM_006721924.1:c.5803G>C	XP_006721987.1:p.Glu1935Gln
XM_006721925.1:c.5740G>C	XP_006721988.1:p.Glu1914Gln
XM_006721926.2:c.5803G>C	XP_006721989.1:p.Glu1935Gln
XM_006721927.1:c.5803G>C	XP_006721990.1:p.Glu1935Gln
XM_011524852.1:c.5800G>C	XP_011523154.1:p.Glu1934Gln
XM_011524853.1:c.5764G>C	XP_011523155.1:p.Glu1922Gln
XM_011524854.1:c.5764G>C	XP_011523156.1:p.Glu1922Gln
XM_011524855.1:c.5764G>C	XP_011523157.1:p.Glu1922Gln
XM_011524856.1:c.5764G>C	XP_011523158.1:p.Glu1922Gln
XM_011524857.1:c.5803G>C	XP_011523159.1:p.Glu1935Gln
NM_001042492.3:c.5773G>C MANE Select	NP_001035957.1:p.Glu1925Gln