Canonical Allele Identifier: CA399001339

Gene: NF1

Linked Data

• dbSNP Id: rs2151470290
• MyVariant Identifiers: chr17:g.29592332C>G (hg19) ; chr17:g.31265314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265314C>G , CM000679.2:g.31265314C>G	GRCh38
NC_000017.10:g.29592332C>G , CM000679.1:g.29592332C>G	GRCh37
NC_000017.9:g.26616458C>G	NCBI36
NG_009018.1:g.175338C>G , LRG_214:g.175338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.612C>G	ENSP00000492721.2:n.612C>G
ENST00000696138.1:c.4792C>G	ENSP00000512431.1:p.Pro1598Ala
ENST00000696140.1:n.916C>G
ENST00000696141.1:c.801C>G
ENST00000687863.1:n.1455C>G
ENST00000691014.1:c.4840C>G	ENSP00000510595.1:p.Pro1614Ala
ENST00000358273.9:c.4810C>G MANE Select	ENSP00000351015.4:p.Pro1604Ala
ENST00000356175.7:c.4747C>G	ENSP00000348498.3:p.Pro1583Ala
ENST00000358273.8:c.4810C>G	ENSP00000351015.4:p.Pro1604Ala
ENST00000456735.6:c.3745C>G	ENSP00000389907.2:p.Pro1249Ala
ENST00000493220.5:n.3283C>G
ENST00000579081.5:c.4849C>G	ENSP00000462408.1:p.Pro1617Ala
NM_000267.3:c.4747C>G , LRG_214t1:c.4747C>G	NP_000258.1:p.Pro1583Ala
NM_001042492.2:c.4810C>G , LRG_214t2:c.4810C>G	NP_001035957.1:p.Pro1604Ala
XM_005257983.1:c.4810C>G	XP_005258040.1:p.Pro1604Ala
XM_005257984.1:c.4747C>G	XP_005258041.1:p.Pro1583Ala
XM_006721922.1:c.4840C>G	XP_006721985.1:p.Pro1614Ala
XM_006721923.2:c.4801C>G	XP_006721986.1:p.Pro1601Ala
XM_006721924.1:c.4840C>G	XP_006721987.1:p.Pro1614Ala
XM_006721925.1:c.4777C>G	XP_006721988.1:p.Pro1593Ala
XM_006721926.2:c.4840C>G	XP_006721989.1:p.Pro1614Ala
XM_006721927.1:c.4840C>G	XP_006721990.1:p.Pro1614Ala
XM_006721928.2:c.4840C>G	XP_006721991.1:p.Pro1614Ala
XM_011524852.1:c.4837C>G	XP_011523154.1:p.Pro1613Ala
XM_011524853.1:c.4801C>G	XP_011523155.1:p.Pro1601Ala
XM_011524854.1:c.4801C>G	XP_011523156.1:p.Pro1601Ala
XM_011524855.1:c.4801C>G	XP_011523157.1:p.Pro1601Ala
XM_011524856.1:c.4801C>G	XP_011523158.1:p.Pro1601Ala
XM_011524857.1:c.4840C>G	XP_011523159.1:p.Pro1614Ala
NM_001042492.3:c.4810C>G MANE Select	NP_001035957.1:p.Pro1604Ala