Canonical Allele Identifier: CA399014296

Gene: NF1

Linked Data

• ClinVar Variation Id: 1425854
• ClinVar RCV Id: RCV001926962 ; RCV002361254
• dbSNP Id: rs2069743547
• MyVariant Identifiers: chr17:g.29665747C>G (hg19) ; chr17:g.31338729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338729C>G , CM000679.2:g.31338729C>G	GRCh38
NC_000017.10:g.29665747C>G , CM000679.1:g.29665747C>G	GRCh37
NC_000017.9:g.26689873C>G	NCBI36
NG_009018.1:g.248753C>G , LRG_214:g.248753C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6827C>G	ENSP00000512431.1:p.Pro2276Arg
ENST00000684826.1:c.1409C>G	ENSP00000509994.1:p.Pro470Arg
ENST00000684998.1:n.2667C>G
ENST00000687027.1:c.1001C>G	ENSP00000508715.1:p.Pro334Arg
ENST00000687863.1:n.3490C>G
ENST00000691014.1:c.6875C>G	ENSP00000510595.1:p.Pro2292Arg
ENST00000693617.1:c.1409C>G	ENSP00000510031.1:p.Pro470Arg
ENST00000358273.9:c.6845C>G MANE Select	ENSP00000351015.4:p.Pro2282Arg
ENST00000356175.7:c.6782C>G	ENSP00000348498.3:p.Pro2261Arg
ENST00000358273.8:c.6845C>G	ENSP00000351015.4:p.Pro2282Arg
ENST00000456735.6:c.5780C>G	ENSP00000389907.2:p.Pro1927Arg
ENST00000471572.6:c.228C>G
ENST00000579081.5:c.6981C>G	ENSP00000462408.1:n.6981C>G
ENST00000581790.5:c.64+849C>G
ENST00000584328.1:n.259C>G
NM_000267.3:c.6782C>G , LRG_214t1:c.6782C>G	NP_000258.1:p.Pro2261Arg
NM_001042492.2:c.6845C>G , LRG_214t2:c.6845C>G	NP_001035957.1:p.Pro2282Arg
XM_005257983.1:c.6845C>G	XP_005258040.1:p.Pro2282Arg
XM_005257984.1:c.6782C>G	XP_005258041.1:p.Pro2261Arg
XM_006721922.1:c.6875C>G	XP_006721985.1:p.Pro2292Arg
XM_006721923.2:c.6836C>G	XP_006721986.1:p.Pro2279Arg
XM_006721924.1:c.6875C>G	XP_006721987.1:p.Pro2292Arg
XM_006721925.1:c.6812C>G	XP_006721988.1:p.Pro2271Arg
XM_006721926.2:c.6875C>G	XP_006721989.1:p.Pro2292Arg
XM_006721927.1:c.6875C>G	XP_006721990.1:p.Pro2292Arg
XM_011524852.1:c.6872C>G	XP_011523154.1:p.Pro2291Arg
XM_011524853.1:c.6836C>G	XP_011523155.1:p.Pro2279Arg
XM_011524854.1:c.6836C>G	XP_011523156.1:p.Pro2279Arg
XM_011524855.1:c.6836C>G	XP_011523157.1:p.Pro2279Arg
XM_011524856.1:c.6836C>G	XP_011523158.1:p.Pro2279Arg
XM_011524857.1:c.6875C>G	XP_011523159.1:p.Pro2292Arg
NM_001042492.3:c.6845C>G MANE Select	NP_001035957.1:p.Pro2282Arg