Canonical Allele Identifier: CA399203482

Gene: NF1

Linked Data

• dbSNP Id: rs2070298197
• MyVariant Identifiers: chr17:g.29684347G>A (hg19) ; chr17:g.31357329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357329G>A , CM000679.2:g.31357329G>A	GRCh38
NC_000017.10:g.29684347G>A , CM000679.1:g.29684347G>A	GRCh37
NC_000017.9:g.26708473G>A	NCBI36
NG_009018.1:g.267353G>A , LRG_214:g.267353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7912G>A	ENSP00000512431.1:p.Ala2638Thr
ENST00000684826.1:c.2494G>A	ENSP00000509994.1:p.Ala832Thr
ENST00000687027.1:c.2086G>A	ENSP00000508715.1:p.Ala696Thr
ENST00000687863.1:n.4575G>A
ENST00000689464.1:c.980G>A
ENST00000691014.1:c.7960G>A	ENSP00000510595.1:p.Ala2654Thr
ENST00000693617.1:c.2494G>A	ENSP00000510031.1:p.Ala832Thr
ENST00000358273.9:c.7930G>A MANE Select	ENSP00000351015.4:p.Ala2644Thr
ENST00000356175.7:c.7867G>A	ENSP00000348498.3:p.Ala2623Thr
ENST00000358273.8:c.7930G>A	ENSP00000351015.4:p.Ala2644Thr
ENST00000456735.6:c.6865G>A	ENSP00000389907.2:p.Ala2289Thr
ENST00000471572.6:c.1313G>A
ENST00000577967.1:n.1526G>A
ENST00000579081.5:c.8066G>A	ENSP00000462408.1:n.8066G>A
ENST00000581790.5:c.915G>A
NM_000267.3:c.7867G>A , LRG_214t1:c.7867G>A	NP_000258.1:p.Ala2623Thr
NM_001042492.2:c.7930G>A , LRG_214t2:c.7930G>A	NP_001035957.1:p.Ala2644Thr
XM_005257983.1:c.7930G>A	XP_005258040.1:p.Ala2644Thr
XM_005257984.1:c.7867G>A	XP_005258041.1:p.Ala2623Thr
XM_006721922.1:c.7960G>A	XP_006721985.1:p.Ala2654Thr
XM_006721923.2:c.7921G>A	XP_006721986.1:p.Ala2641Thr
XM_006721924.1:c.7960G>A	XP_006721987.1:p.Ala2654Thr
XM_006721925.1:c.7897G>A	XP_006721988.1:p.Ala2633Thr
XM_006721926.2:c.7960G>A	XP_006721989.1:p.Ala2654Thr
XM_006721927.1:c.7960G>A	XP_006721990.1:p.Ala2654Thr
XM_011524852.1:c.7957G>A	XP_011523154.1:p.Ala2653Thr
XM_011524853.1:c.7921G>A	XP_011523155.1:p.Ala2641Thr
XM_011524854.1:c.7921G>A	XP_011523156.1:p.Ala2641Thr
XM_011524855.1:c.7921G>A	XP_011523157.1:p.Ala2641Thr
XM_011524856.1:c.7921G>A	XP_011523158.1:p.Ala2641Thr
XM_011524857.1:c.7837G>A	XP_011523159.1:p.Ala2613Thr
NM_001042492.3:c.7930G>A MANE Select	NP_001035957.1:p.Ala2644Thr