Canonical Allele Identifier: CA499233568

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657503A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330485A>G , CM000679.2:g.31330485A>G	GRCh38
NC_000017.10:g.29657503A>G , CM000679.1:g.29657503A>G	GRCh37
NC_000017.9:g.26681629A>G	NCBI36
NG_009018.1:g.240509A>G , LRG_214:g.240509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1987A>G	ENSP00000492721.2:n.1987A>G
ENST00000696138.1:c.5781A>G	ENSP00000512431.1:p.Gly1927=
ENST00000684826.1:c.363A>G	ENSP00000509994.1:p.Gly121=
ENST00000687027.1:c.-46A>G	ENSP00000508715.1:n.-46A>G
ENST00000687863.1:n.2444A>G
ENST00000691014.1:c.5829A>G	ENSP00000510595.1:p.Gly1943=
ENST00000693617.1:c.363A>G	ENSP00000510031.1:p.Gly121=
ENST00000358273.9:c.5799A>G MANE Select	ENSP00000351015.4:p.Gly1933=
ENST00000356175.7:c.5736A>G	ENSP00000348498.3:p.Gly1912=
ENST00000358273.8:c.5799A>G	ENSP00000351015.4:p.Gly1933=
ENST00000456735.6:c.4734A>G	ENSP00000389907.2:p.Gly1578=
ENST00000479536.2:c.157A>G
ENST00000493220.5:n.4272A>G
ENST00000579081.5:c.5935A>G	ENSP00000462408.1:n.5935A>G
ENST00000581113.6:n.1116A>G
NM_000267.3:c.5736A>G , LRG_214t1:c.5736A>G	NP_000258.1:p.Gly1912=
NM_001042492.2:c.5799A>G , LRG_214t2:c.5799A>G	NP_001035957.1:p.Gly1933=
XM_005257983.1:c.5799A>G	XP_005258040.1:p.Gly1933=
XM_005257984.1:c.5736A>G	XP_005258041.1:p.Gly1912=
XM_006721922.1:c.5829A>G	XP_006721985.1:p.Gly1943=
XM_006721923.2:c.5790A>G	XP_006721986.1:p.Gly1930=
XM_006721924.1:c.5829A>G	XP_006721987.1:p.Gly1943=
XM_006721925.1:c.5766A>G	XP_006721988.1:p.Gly1922=
XM_006721926.2:c.5829A>G	XP_006721989.1:p.Gly1943=
XM_006721927.1:c.5829A>G	XP_006721990.1:p.Gly1943=
XM_011524852.1:c.5826A>G	XP_011523154.1:p.Gly1942=
XM_011524853.1:c.5790A>G	XP_011523155.1:p.Gly1930=
XM_011524854.1:c.5790A>G	XP_011523156.1:p.Gly1930=
XM_011524855.1:c.5790A>G	XP_011523157.1:p.Gly1930=
XM_011524856.1:c.5790A>G	XP_011523158.1:p.Gly1930=
XM_011524857.1:c.5829A>G	XP_011523159.1:p.Gly1943=
NM_001042492.3:c.5799A>G MANE Select	NP_001035957.1:p.Gly1933=