Canonical Allele Identifier: CA399015779

Gene: NF1

Linked Data

• ClinVar Variation Id: 2027186
• ClinVar RCV Id: RCV002866497
• MyVariant Identifiers: chr17:g.29670148T>G (hg19) ; chr17:g.31343130T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343130T>G , CM000679.2:g.31343130T>G	GRCh38
NC_000017.10:g.29670148T>G , CM000679.1:g.29670148T>G	GRCh37
NC_000017.9:g.26694274T>G	NCBI36
NG_009018.1:g.253154T>G , LRG_214:g.253154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7166T>G	ENSP00000512431.1:p.Leu2389Ter
ENST00000684826.1:c.1748T>G	ENSP00000509994.1:p.Leu583Ter
ENST00000687027.1:c.1340T>G	ENSP00000508715.1:p.Leu447Ter
ENST00000687863.1:n.3829T>G
ENST00000689464.1:c.123T>G
ENST00000691014.1:c.7214T>G	ENSP00000510595.1:p.Leu2405Ter
ENST00000693617.1:c.1748T>G	ENSP00000510031.1:p.Leu583Ter
ENST00000358273.9:c.7184T>G MANE Select	ENSP00000351015.4:p.Leu2395Ter
ENST00000356175.7:c.7121T>G	ENSP00000348498.3:p.Leu2374Ter
ENST00000358273.8:c.7184T>G	ENSP00000351015.4:p.Leu2395Ter
ENST00000456735.6:c.6119T>G	ENSP00000389907.2:p.Leu2040Ter
ENST00000471572.6:c.567T>G
ENST00000579081.5:c.7320T>G	ENSP00000462408.1:n.7320T>G
ENST00000581790.5:c.327T>G
ENST00000582892.1:n.426T>G
NM_000267.3:c.7121T>G , LRG_214t1:c.7121T>G	NP_000258.1:p.Leu2374Ter
NM_001042492.2:c.7184T>G , LRG_214t2:c.7184T>G	NP_001035957.1:p.Leu2395Ter
XM_005257983.1:c.7184T>G	XP_005258040.1:p.Leu2395Ter
XM_005257984.1:c.7121T>G	XP_005258041.1:p.Leu2374Ter
XM_006721922.1:c.7214T>G	XP_006721985.1:p.Leu2405Ter
XM_006721923.2:c.7175T>G	XP_006721986.1:p.Leu2392Ter
XM_006721924.1:c.7214T>G	XP_006721987.1:p.Leu2405Ter
XM_006721925.1:c.7151T>G	XP_006721988.1:p.Leu2384Ter
XM_006721926.2:c.7214T>G	XP_006721989.1:p.Leu2405Ter
XM_006721927.1:c.7214T>G	XP_006721990.1:p.Leu2405Ter
XM_011524852.1:c.7211T>G	XP_011523154.1:p.Leu2404Ter
XM_011524853.1:c.7175T>G	XP_011523155.1:p.Leu2392Ter
XM_011524854.1:c.7175T>G	XP_011523156.1:p.Leu2392Ter
XM_011524855.1:c.7175T>G	XP_011523157.1:p.Leu2392Ter
XM_011524856.1:c.7175T>G	XP_011523158.1:p.Leu2392Ter
XM_011524857.1:c.7214T>G	XP_011523159.1:p.Leu2405Ter
NM_001042492.3:c.7184T>G MANE Select	NP_001035957.1:p.Leu2395Ter