Canonical Allele Identifier: CA399014113

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665104A>T (hg19) ; chr17:g.31338086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338086A>T , CM000679.2:g.31338086A>T	GRCh38
NC_000017.10:g.29665104A>T , CM000679.1:g.29665104A>T	GRCh37
NC_000017.9:g.26689230A>T	NCBI36
NG_009018.1:g.248110A>T , LRG_214:g.248110A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6748A>T	ENSP00000512431.1:p.Ser2250Cys
ENST00000684826.1:c.1330A>T	ENSP00000509994.1:p.Ser444Cys
ENST00000684998.1:n.2024A>T
ENST00000687027.1:c.922A>T	ENSP00000508715.1:p.Ser308Cys
ENST00000687863.1:n.3411A>T
ENST00000691014.1:c.6796A>T	ENSP00000510595.1:p.Ser2266Cys
ENST00000693617.1:c.1330A>T	ENSP00000510031.1:p.Ser444Cys
ENST00000358273.9:c.6766A>T MANE Select	ENSP00000351015.4:p.Ser2256Cys
ENST00000356175.7:c.6703A>T	ENSP00000348498.3:p.Ser2235Cys
ENST00000358273.8:c.6766A>T	ENSP00000351015.4:p.Ser2256Cys
ENST00000456735.6:c.5701A>T	ENSP00000389907.2:p.Ser1901Cys
ENST00000471572.6:c.149A>T
ENST00000579081.5:c.6902A>T	ENSP00000462408.1:n.6902A>T
ENST00000581790.5:c.64+206A>T
ENST00000584328.1:n.180A>T
NM_000267.3:c.6703A>T , LRG_214t1:c.6703A>T	NP_000258.1:p.Ser2235Cys
NM_001042492.2:c.6766A>T , LRG_214t2:c.6766A>T	NP_001035957.1:p.Ser2256Cys
XM_005257983.1:c.6766A>T	XP_005258040.1:p.Ser2256Cys
XM_005257984.1:c.6703A>T	XP_005258041.1:p.Ser2235Cys
XM_006721922.1:c.6796A>T	XP_006721985.1:p.Ser2266Cys
XM_006721923.2:c.6757A>T	XP_006721986.1:p.Ser2253Cys
XM_006721924.1:c.6796A>T	XP_006721987.1:p.Ser2266Cys
XM_006721925.1:c.6733A>T	XP_006721988.1:p.Ser2245Cys
XM_006721926.2:c.6796A>T	XP_006721989.1:p.Ser2266Cys
XM_006721927.1:c.6796A>T	XP_006721990.1:p.Ser2266Cys
XM_011524852.1:c.6793A>T	XP_011523154.1:p.Ser2265Cys
XM_011524853.1:c.6757A>T	XP_011523155.1:p.Ser2253Cys
XM_011524854.1:c.6757A>T	XP_011523156.1:p.Ser2253Cys
XM_011524855.1:c.6757A>T	XP_011523157.1:p.Ser2253Cys
XM_011524856.1:c.6757A>T	XP_011523158.1:p.Ser2253Cys
XM_011524857.1:c.6796A>T	XP_011523159.1:p.Ser2266Cys
NM_001042492.3:c.6766A>T MANE Select	NP_001035957.1:p.Ser2256Cys