Canonical Allele Identifier: CA399016725

Gene: NF1

Linked Data

• gnomAD v4: 17-31349156-C-A
• MyVariant Identifiers: chr17:g.29676174C>A (hg19) ; chr17:g.31349156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31349156C>A , CM000679.2:g.31349156C>A	GRCh38
NC_000017.10:g.29676174C>A , CM000679.1:g.29676174C>A	GRCh37
NC_000017.9:g.26700300C>A	NCBI36
NG_009018.1:g.259180C>A , LRG_214:g.259180C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7208C>A	ENSP00000512431.1:p.Thr2403Lys
ENST00000684826.1:c.1790C>A	ENSP00000509994.1:p.Thr597Lys
ENST00000687027.1:c.1382C>A	ENSP00000508715.1:p.Thr461Lys
ENST00000687863.1:n.3871C>A
ENST00000689464.1:c.276C>A
ENST00000691014.1:c.7256C>A	ENSP00000510595.1:p.Thr2419Lys
ENST00000693617.1:c.1790C>A	ENSP00000510031.1:p.Thr597Lys
ENST00000358273.9:c.7226C>A MANE Select	ENSP00000351015.4:p.Thr2409Lys
ENST00000356175.7:c.7163C>A	ENSP00000348498.3:p.Thr2388Lys
ENST00000358273.8:c.7226C>A	ENSP00000351015.4:p.Thr2409Lys
ENST00000456735.6:c.6161C>A	ENSP00000389907.2:p.Thr2054Lys
ENST00000471572.6:c.609C>A
ENST00000579081.5:c.7362C>A	ENSP00000462408.1:n.7362C>A
ENST00000581790.5:c.369C>A
NM_000267.3:c.7163C>A , LRG_214t1:c.7163C>A	NP_000258.1:p.Thr2388Lys
NM_001042492.2:c.7226C>A , LRG_214t2:c.7226C>A	NP_001035957.1:p.Thr2409Lys
XM_005257983.1:c.7226C>A	XP_005258040.1:p.Thr2409Lys
XM_005257984.1:c.7163C>A	XP_005258041.1:p.Thr2388Lys
XM_006721922.1:c.7256C>A	XP_006721985.1:p.Thr2419Lys
XM_006721923.2:c.7217C>A	XP_006721986.1:p.Thr2406Lys
XM_006721924.1:c.7256C>A	XP_006721987.1:p.Thr2419Lys
XM_006721925.1:c.7193C>A	XP_006721988.1:p.Thr2398Lys
XM_006721926.2:c.7256C>A	XP_006721989.1:p.Thr2419Lys
XM_006721927.1:c.7256C>A	XP_006721990.1:p.Thr2419Lys
XM_011524852.1:c.7253C>A	XP_011523154.1:p.Thr2418Lys
XM_011524853.1:c.7217C>A	XP_011523155.1:p.Thr2406Lys
XM_011524854.1:c.7217C>A	XP_011523156.1:p.Thr2406Lys
XM_011524855.1:c.7217C>A	XP_011523157.1:p.Thr2406Lys
XM_011524856.1:c.7217C>A	XP_011523158.1:p.Thr2406Lys
XM_011524857.1:c.7256C>A	XP_011523159.1:p.Thr2419Lys
NM_001042492.3:c.7226C>A MANE Select	NP_001035957.1:p.Thr2409Lys