Canonical Allele Identifier: CA399014180

Gene: NF1

Linked Data

• ClinVar Variation Id: 2695539
• ClinVar RCV Id: RCV003495453
• MyVariant Identifiers: chr17:g.29665136G>T (hg19) ; chr17:g.31338118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338118G>T , CM000679.2:g.31338118G>T	GRCh38
NC_000017.10:g.29665136G>T , CM000679.1:g.29665136G>T	GRCh37
NC_000017.9:g.26689262G>T	NCBI36
NG_009018.1:g.248142G>T , LRG_214:g.248142G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6780G>T	ENSP00000512431.1:p.Gln2260His
ENST00000684826.1:c.1362G>T	ENSP00000509994.1:p.Gln454His
ENST00000684998.1:n.2056G>T
ENST00000687027.1:c.954G>T	ENSP00000508715.1:p.Gln318His
ENST00000687863.1:n.3443G>T
ENST00000691014.1:c.6828G>T	ENSP00000510595.1:p.Gln2276His
ENST00000693617.1:c.1362G>T	ENSP00000510031.1:p.Gln454His
ENST00000358273.9:c.6798G>T MANE Select	ENSP00000351015.4:p.Gln2266His
ENST00000356175.7:c.6735G>T	ENSP00000348498.3:p.Gln2245His
ENST00000358273.8:c.6798G>T	ENSP00000351015.4:p.Gln2266His
ENST00000456735.6:c.5733G>T	ENSP00000389907.2:p.Gln1911His
ENST00000471572.6:c.181G>T
ENST00000579081.5:c.6934G>T	ENSP00000462408.1:n.6934G>T
ENST00000581790.5:c.64+238G>T
ENST00000584328.1:n.212G>T
NM_000267.3:c.6735G>T , LRG_214t1:c.6735G>T	NP_000258.1:p.Gln2245His
NM_001042492.2:c.6798G>T , LRG_214t2:c.6798G>T	NP_001035957.1:p.Gln2266His
XM_005257983.1:c.6798G>T	XP_005258040.1:p.Gln2266His
XM_005257984.1:c.6735G>T	XP_005258041.1:p.Gln2245His
XM_006721922.1:c.6828G>T	XP_006721985.1:p.Gln2276His
XM_006721923.2:c.6789G>T	XP_006721986.1:p.Gln2263His
XM_006721924.1:c.6828G>T	XP_006721987.1:p.Gln2276His
XM_006721925.1:c.6765G>T	XP_006721988.1:p.Gln2255His
XM_006721926.2:c.6828G>T	XP_006721989.1:p.Gln2276His
XM_006721927.1:c.6828G>T	XP_006721990.1:p.Gln2276His
XM_011524852.1:c.6825G>T	XP_011523154.1:p.Gln2275His
XM_011524853.1:c.6789G>T	XP_011523155.1:p.Gln2263His
XM_011524854.1:c.6789G>T	XP_011523156.1:p.Gln2263His
XM_011524855.1:c.6789G>T	XP_011523157.1:p.Gln2263His
XM_011524856.1:c.6789G>T	XP_011523158.1:p.Gln2263His
XM_011524857.1:c.6828G>T	XP_011523159.1:p.Gln2276His
NM_001042492.3:c.6798G>T MANE Select	NP_001035957.1:p.Gln2266His