Canonical Allele Identifier: CA398988168

Gene: NF1

Linked Data

• dbSNP Id: rs1060503914
• MyVariant Identifiers: chr17:g.29483027C>G (hg19) ; chr17:g.31156009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31156009C>G , CM000679.2:g.31156009C>G	GRCh38
NC_000017.10:g.29483027C>G , CM000679.1:g.29483027C>G	GRCh37
NC_000017.9:g.26507153C>G	NCBI36
NG_009018.1:g.66033C>G , LRG_214:g.66033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.87C>G	ENSP00000512431.1:p.Asn29Lys
ENST00000691014.1:c.87C>G	ENSP00000510595.1:p.Asn29Lys
ENST00000358273.9:c.87C>G MANE Select	ENSP00000351015.4:p.Asn29Lys
ENST00000356175.7:c.87C>G	ENSP00000348498.3:p.Asn29Lys
ENST00000358273.8:c.87C>G	ENSP00000351015.4:p.Asn29Lys
ENST00000431387.8:c.87C>G	ENSP00000412921.4:p.Asn29Lys
ENST00000487476.5:n.470C>G
ENST00000489712.6:c.-115C>G	ENSP00000467284.1:n.-115C>G
ENST00000579081.5:c.189C>G	ENSP00000462408.1:p.Asn63Lys
NM_000267.3:c.87C>G , LRG_214t1:c.87C>G	NP_000258.1:p.Asn29Lys
NM_001042492.2:c.87C>G , LRG_214t2:c.87C>G	NP_001035957.1:p.Asn29Lys
NM_001128147.2:c.87C>G	NP_001121619.1:p.Asn29Lys
XM_005257983.1:c.87C>G	XP_005258040.1:p.Asn29Lys
XM_005257984.1:c.87C>G	XP_005258041.1:p.Asn29Lys
XM_006721922.1:c.87C>G	XP_006721985.1:p.Asn29Lys
XM_006721923.2:c.48C>G	XP_006721986.1:p.Asn16Lys
XM_006721924.1:c.87C>G	XP_006721987.1:p.Asn29Lys
XM_006721925.1:c.87C>G	XP_006721988.1:p.Asn29Lys
XM_006721926.2:c.87C>G	XP_006721989.1:p.Asn29Lys
XM_006721927.1:c.87C>G	XP_006721990.1:p.Asn29Lys
XM_006721928.2:c.87C>G	XP_006721991.1:p.Asn29Lys
XM_011524852.1:c.87C>G	XP_011523154.1:p.Asn29Lys
XM_011524853.1:c.48C>G	XP_011523155.1:p.Asn16Lys
XM_011524854.1:c.48C>G	XP_011523156.1:p.Asn16Lys
XM_011524855.1:c.48C>G	XP_011523157.1:p.Asn16Lys
XM_011524856.1:c.48C>G	XP_011523158.1:p.Asn16Lys
XM_011524857.1:c.87C>G	XP_011523159.1:p.Asn29Lys
NM_001042492.3:c.87C>G MANE Select	NP_001035957.1:p.Asn29Lys
NM_001128147.3:c.87C>G	NP_001121619.1:p.Asn29Lys