Canonical Allele Identifier: CA399015597

Gene: NF1

Linked Data

• ClinVar Variation Id: 996432
• ClinVar RCV Id: RCV001290840
• dbSNP Id: rs2069867116
• MyVariant Identifiers: chr17:g.29670070G>A (hg19) ; chr17:g.31343052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343052G>A , CM000679.2:g.31343052G>A	GRCh38
NC_000017.10:g.29670070G>A , CM000679.1:g.29670070G>A	GRCh37
NC_000017.9:g.26694196G>A	NCBI36
NG_009018.1:g.253076G>A , LRG_214:g.253076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7088G>A	ENSP00000512431.1:p.Trp2363Ter
ENST00000684826.1:c.1670G>A	ENSP00000509994.1:p.Trp557Ter
ENST00000687027.1:c.1262G>A	ENSP00000508715.1:p.Trp421Ter
ENST00000687863.1:n.3751G>A
ENST00000689464.1:c.45G>A
ENST00000691014.1:c.7136G>A	ENSP00000510595.1:p.Trp2379Ter
ENST00000693617.1:c.1670G>A	ENSP00000510031.1:p.Trp557Ter
ENST00000358273.9:c.7106G>A MANE Select	ENSP00000351015.4:p.Trp2369Ter
ENST00000356175.7:c.7043G>A	ENSP00000348498.3:p.Trp2348Ter
ENST00000358273.8:c.7106G>A	ENSP00000351015.4:p.Trp2369Ter
ENST00000456735.6:c.6041G>A	ENSP00000389907.2:p.Trp2014Ter
ENST00000471572.6:c.489G>A
ENST00000579081.5:c.7242G>A	ENSP00000462408.1:n.7242G>A
ENST00000581790.5:c.249G>A
ENST00000582892.1:n.348G>A
ENST00000584328.1:n.520G>A
NM_000267.3:c.7043G>A , LRG_214t1:c.7043G>A	NP_000258.1:p.Trp2348Ter
NM_001042492.2:c.7106G>A , LRG_214t2:c.7106G>A	NP_001035957.1:p.Trp2369Ter
XM_005257983.1:c.7106G>A	XP_005258040.1:p.Trp2369Ter
XM_005257984.1:c.7043G>A	XP_005258041.1:p.Trp2348Ter
XM_006721922.1:c.7136G>A	XP_006721985.1:p.Trp2379Ter
XM_006721923.2:c.7097G>A	XP_006721986.1:p.Trp2366Ter
XM_006721924.1:c.7136G>A	XP_006721987.1:p.Trp2379Ter
XM_006721925.1:c.7073G>A	XP_006721988.1:p.Trp2358Ter
XM_006721926.2:c.7136G>A	XP_006721989.1:p.Trp2379Ter
XM_006721927.1:c.7136G>A	XP_006721990.1:p.Trp2379Ter
XM_011524852.1:c.7133G>A	XP_011523154.1:p.Trp2378Ter
XM_011524853.1:c.7097G>A	XP_011523155.1:p.Trp2366Ter
XM_011524854.1:c.7097G>A	XP_011523156.1:p.Trp2366Ter
XM_011524855.1:c.7097G>A	XP_011523157.1:p.Trp2366Ter
XM_011524856.1:c.7097G>A	XP_011523158.1:p.Trp2366Ter
XM_011524857.1:c.7136G>A	XP_011523159.1:p.Trp2379Ter
NM_001042492.3:c.7106G>A MANE Select	NP_001035957.1:p.Trp2369Ter