Canonical Allele Identifier: CA399000105

Gene: NF1

Linked Data

• dbSNP Id: rs2151466198
• MyVariant Identifiers: chr17:g.29588734A>T (hg19) ; chr17:g.31261716A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261716A>T , CM000679.2:g.31261716A>T	GRCh38
NC_000017.10:g.29588734A>T , CM000679.1:g.29588734A>T	GRCh37
NC_000017.9:g.26612860A>T	NCBI36
NG_009018.1:g.171740A>T , LRG_214:g.171740A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.385A>T	ENSP00000492721.2:p.Ile129Leu
ENST00000696138.1:c.4565A>T	ENSP00000512431.1:p.His1522Leu
ENST00000696140.1:n.689A>T
ENST00000696141.1:c.574A>T
ENST00000687863.1:n.1228A>T
ENST00000691014.1:c.4613A>T	ENSP00000510595.1:p.His1538Leu
ENST00000358273.9:c.4583A>T MANE Select	ENSP00000351015.4:p.His1528Leu
ENST00000356175.7:c.4520A>T	ENSP00000348498.3:p.His1507Leu
ENST00000358273.8:c.4583A>T	ENSP00000351015.4:p.His1528Leu
ENST00000456735.6:c.3518A>T	ENSP00000389907.2:p.His1173Leu
ENST00000466819.5:c.1099A>T
ENST00000479614.1:c.1036A>T
ENST00000493220.5:n.3056A>T
ENST00000579081.5:c.4622A>T	ENSP00000462408.1:p.His1541Leu
NM_000267.3:c.4520A>T , LRG_214t1:c.4520A>T	NP_000258.1:p.His1507Leu
NM_001042492.2:c.4583A>T , LRG_214t2:c.4583A>T	NP_001035957.1:p.His1528Leu
XM_005257983.1:c.4583A>T	XP_005258040.1:p.His1528Leu
XM_005257984.1:c.4520A>T	XP_005258041.1:p.His1507Leu
XM_006721922.1:c.4613A>T	XP_006721985.1:p.His1538Leu
XM_006721923.2:c.4574A>T	XP_006721986.1:p.His1525Leu
XM_006721924.1:c.4613A>T	XP_006721987.1:p.His1538Leu
XM_006721925.1:c.4550A>T	XP_006721988.1:p.His1517Leu
XM_006721926.2:c.4613A>T	XP_006721989.1:p.His1538Leu
XM_006721927.1:c.4613A>T	XP_006721990.1:p.His1538Leu
XM_006721928.2:c.4613A>T	XP_006721991.1:p.His1538Leu
XM_011524852.1:c.4610A>T	XP_011523154.1:p.His1537Leu
XM_011524853.1:c.4574A>T	XP_011523155.1:p.His1525Leu
XM_011524854.1:c.4574A>T	XP_011523156.1:p.His1525Leu
XM_011524855.1:c.4574A>T	XP_011523157.1:p.His1525Leu
XM_011524856.1:c.4574A>T	XP_011523158.1:p.His1525Leu
XM_011524857.1:c.4613A>T	XP_011523159.1:p.His1538Leu
NM_001042492.3:c.4583A>T MANE Select	NP_001035957.1:p.His1528Leu