Canonical Allele Identifier: CA499236823

Gene: NF1

Linked Data

• ClinVar Variation Id: 569930
• ClinVar RCV Id: RCV000690688
• dbSNP Id: rs1567620421
• MyVariant Identifiers: chr17:g.29670065G>A (hg19) ; chr17:g.31343047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343047G>A , CM000679.2:g.31343047G>A	GRCh38
NC_000017.10:g.29670065G>A , CM000679.1:g.29670065G>A	GRCh37
NC_000017.9:g.26694191G>A	NCBI36
NG_009018.1:g.253071G>A , LRG_214:g.253071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7083G>A	ENSP00000512431.1:p.Leu2361=
ENST00000684826.1:c.1665G>A	ENSP00000509994.1:p.Leu555=
ENST00000687027.1:c.1257G>A	ENSP00000508715.1:p.Leu419=
ENST00000687863.1:n.3746G>A
ENST00000689464.1:c.40G>A
ENST00000691014.1:c.7131G>A	ENSP00000510595.1:p.Leu2377=
ENST00000693617.1:c.1665G>A	ENSP00000510031.1:p.Leu555=
ENST00000358273.9:c.7101G>A MANE Select	ENSP00000351015.4:p.Leu2367=
ENST00000356175.7:c.7038G>A	ENSP00000348498.3:p.Leu2346=
ENST00000358273.8:c.7101G>A	ENSP00000351015.4:p.Leu2367=
ENST00000456735.6:c.6036G>A	ENSP00000389907.2:p.Leu2012=
ENST00000471572.6:c.484G>A
ENST00000579081.5:c.7237G>A	ENSP00000462408.1:n.7237G>A
ENST00000581790.5:c.244G>A
ENST00000582892.1:n.343G>A
ENST00000584328.1:n.515G>A
NM_000267.3:c.7038G>A , LRG_214t1:c.7038G>A	NP_000258.1:p.Leu2346=
NM_001042492.2:c.7101G>A , LRG_214t2:c.7101G>A	NP_001035957.1:p.Leu2367=
XM_005257983.1:c.7101G>A	XP_005258040.1:p.Leu2367=
XM_005257984.1:c.7038G>A	XP_005258041.1:p.Leu2346=
XM_006721922.1:c.7131G>A	XP_006721985.1:p.Leu2377=
XM_006721923.2:c.7092G>A	XP_006721986.1:p.Leu2364=
XM_006721924.1:c.7131G>A	XP_006721987.1:p.Leu2377=
XM_006721925.1:c.7068G>A	XP_006721988.1:p.Leu2356=
XM_006721926.2:c.7131G>A	XP_006721989.1:p.Leu2377=
XM_006721927.1:c.7131G>A	XP_006721990.1:p.Leu2377=
XM_011524852.1:c.7128G>A	XP_011523154.1:p.Leu2376=
XM_011524853.1:c.7092G>A	XP_011523155.1:p.Leu2364=
XM_011524854.1:c.7092G>A	XP_011523156.1:p.Leu2364=
XM_011524855.1:c.7092G>A	XP_011523157.1:p.Leu2364=
XM_011524856.1:c.7092G>A	XP_011523158.1:p.Leu2364=
XM_011524857.1:c.7131G>A	XP_011523159.1:p.Leu2377=
NM_001042492.3:c.7101G>A MANE Select	NP_001035957.1:p.Leu2367=