Canonical Allele Identifier: CA8485885

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31225188C>T , CM000679.2:g.31225188C>T	GRCh38
NC_000017.10:g.29552206C>T , CM000679.1:g.29552206C>T	GRCh37
NC_000017.9:g.26576332C>T	NCBI36
NG_009018.1:g.135212C>T , LRG_214:g.135212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.1939C>T MANE Select	NP_001035957.1:p.His647Tyr
ENST00000358273.9:c.1939C>T MANE Select	ENSP00000351015.4:p.His647Tyr
NM_000267.3:c.1939C>T , LRG_214t1:c.1939C>T	NP_000258.1:p.His647Tyr
NM_001042492.2:c.1939C>T , LRG_214t2:c.1939C>T	NP_001035957.1:p.His647Tyr
ENST00000356175.7:c.1939C>T	ENSP00000348498.3:p.His647Tyr
ENST00000358273.8:c.1939C>T	ENSP00000351015.4:p.His647Tyr
ENST00000456735.6:c.937C>T	ENSP00000389907.2:p.His313Tyr
ENST00000493220.5:n.106C>T
ENST00000495910.6:c.1714C>T
ENST00000579081.5:c.2041C>T	ENSP00000462408.1:p.His681Tyr
ENST00000691014.1:c.1969C>T	ENSP00000510595.1:p.His657Tyr
ENST00000696138.1:c.1984C>T	ENSP00000512431.1:p.His662Tyr
XM_005257983.1:c.1939C>T	XP_005258040.1:p.His647Tyr
XM_005257984.1:c.1939C>T	XP_005258041.1:p.His647Tyr
XM_006721922.1:c.1969C>T	XP_006721985.1:p.His657Tyr
XM_006721923.2:c.1930C>T	XP_006721986.1:p.His644Tyr
XM_006721924.1:c.1969C>T	XP_006721987.1:p.His657Tyr
XM_006721925.1:c.1969C>T	XP_006721988.1:p.His657Tyr
XM_006721926.2:c.1969C>T	XP_006721989.1:p.His657Tyr
XM_006721927.1:c.1969C>T	XP_006721990.1:p.His657Tyr
XM_006721928.2:c.1969C>T	XP_006721991.1:p.His657Tyr
XM_011524852.1:c.1966C>T	XP_011523154.1:p.His656Tyr
XM_011524853.1:c.1930C>T	XP_011523155.1:p.His644Tyr
XM_011524854.1:c.1930C>T	XP_011523156.1:p.His644Tyr
XM_011524855.1:c.1930C>T	XP_011523157.1:p.His644Tyr
XM_011524856.1:c.1930C>T	XP_011523158.1:p.His644Tyr
XM_011524857.1:c.1969C>T	XP_011523159.1:p.His657Tyr