Canonical Allele Identifier: CA399014260

Gene: NF1

Linked Data

• ClinVar Variation Id: 655846
• ClinVar RCV Id: RCV000812108
• dbSNP Id: rs1597845918
• MyVariant Identifiers: chr17:g.29665732G>A (hg19) ; chr17:g.31338714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338714G>A , CM000679.2:g.31338714G>A	GRCh38
NC_000017.10:g.29665732G>A , CM000679.1:g.29665732G>A	GRCh37
NC_000017.9:g.26689858G>A	NCBI36
NG_009018.1:g.248738G>A , LRG_214:g.248738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6812G>A	ENSP00000512431.1:p.Ser2271Asn
ENST00000684826.1:c.1394G>A	ENSP00000509994.1:p.Ser465Asn
ENST00000684998.1:n.2652G>A
ENST00000687027.1:c.986G>A	ENSP00000508715.1:p.Ser329Asn
ENST00000687863.1:n.3475G>A
ENST00000691014.1:c.6860G>A	ENSP00000510595.1:p.Ser2287Asn
ENST00000693617.1:c.1394G>A	ENSP00000510031.1:p.Ser465Asn
ENST00000358273.9:c.6830G>A MANE Select	ENSP00000351015.4:p.Ser2277Asn
ENST00000356175.7:c.6767G>A	ENSP00000348498.3:p.Ser2256Asn
ENST00000358273.8:c.6830G>A	ENSP00000351015.4:p.Ser2277Asn
ENST00000456735.6:c.5765G>A	ENSP00000389907.2:p.Ser1922Asn
ENST00000471572.6:c.213G>A
ENST00000579081.5:c.6966G>A	ENSP00000462408.1:n.6966G>A
ENST00000581790.5:c.64+834G>A
ENST00000584328.1:n.244G>A
NM_000267.3:c.6767G>A , LRG_214t1:c.6767G>A	NP_000258.1:p.Ser2256Asn
NM_001042492.2:c.6830G>A , LRG_214t2:c.6830G>A	NP_001035957.1:p.Ser2277Asn
XM_005257983.1:c.6830G>A	XP_005258040.1:p.Ser2277Asn
XM_005257984.1:c.6767G>A	XP_005258041.1:p.Ser2256Asn
XM_006721922.1:c.6860G>A	XP_006721985.1:p.Ser2287Asn
XM_006721923.2:c.6821G>A	XP_006721986.1:p.Ser2274Asn
XM_006721924.1:c.6860G>A	XP_006721987.1:p.Ser2287Asn
XM_006721925.1:c.6797G>A	XP_006721988.1:p.Ser2266Asn
XM_006721926.2:c.6860G>A	XP_006721989.1:p.Ser2287Asn
XM_006721927.1:c.6860G>A	XP_006721990.1:p.Ser2287Asn
XM_011524852.1:c.6857G>A	XP_011523154.1:p.Ser2286Asn
XM_011524853.1:c.6821G>A	XP_011523155.1:p.Ser2274Asn
XM_011524854.1:c.6821G>A	XP_011523156.1:p.Ser2274Asn
XM_011524855.1:c.6821G>A	XP_011523157.1:p.Ser2274Asn
XM_011524856.1:c.6821G>A	XP_011523158.1:p.Ser2274Asn
XM_011524857.1:c.6860G>A	XP_011523159.1:p.Ser2287Asn
NM_001042492.3:c.6830G>A MANE Select	NP_001035957.1:p.Ser2277Asn