Canonical Allele Identifier: CA399014108

Gene: NF1

Linked Data

• dbSNP Id: rs2069726396
• MyVariant Identifiers: chr17:g.29665102T>A (hg19) ; chr17:g.31338084T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338084T>A , CM000679.2:g.31338084T>A	GRCh38
NC_000017.10:g.29665102T>A , CM000679.1:g.29665102T>A	GRCh37
NC_000017.9:g.26689228T>A	NCBI36
NG_009018.1:g.248108T>A , LRG_214:g.248108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6746T>A	ENSP00000512431.1:p.Ile2249Asn
ENST00000684826.1:c.1328T>A	ENSP00000509994.1:p.Ile443Asn
ENST00000684998.1:n.2022T>A
ENST00000687027.1:c.920T>A	ENSP00000508715.1:p.Ile307Asn
ENST00000687863.1:n.3409T>A
ENST00000691014.1:c.6794T>A	ENSP00000510595.1:p.Ile2265Asn
ENST00000693617.1:c.1328T>A	ENSP00000510031.1:p.Ile443Asn
ENST00000358273.9:c.6764T>A MANE Select	ENSP00000351015.4:p.Ile2255Asn
ENST00000356175.7:c.6701T>A	ENSP00000348498.3:p.Ile2234Asn
ENST00000358273.8:c.6764T>A	ENSP00000351015.4:p.Ile2255Asn
ENST00000456735.6:c.5699T>A	ENSP00000389907.2:p.Ile1900Asn
ENST00000471572.6:c.147T>A
ENST00000579081.5:c.6900T>A	ENSP00000462408.1:n.6900T>A
ENST00000581790.5:c.64+204T>A
ENST00000584328.1:n.178T>A
NM_000267.3:c.6701T>A , LRG_214t1:c.6701T>A	NP_000258.1:p.Ile2234Asn
NM_001042492.2:c.6764T>A , LRG_214t2:c.6764T>A	NP_001035957.1:p.Ile2255Asn
XM_005257983.1:c.6764T>A	XP_005258040.1:p.Ile2255Asn
XM_005257984.1:c.6701T>A	XP_005258041.1:p.Ile2234Asn
XM_006721922.1:c.6794T>A	XP_006721985.1:p.Ile2265Asn
XM_006721923.2:c.6755T>A	XP_006721986.1:p.Ile2252Asn
XM_006721924.1:c.6794T>A	XP_006721987.1:p.Ile2265Asn
XM_006721925.1:c.6731T>A	XP_006721988.1:p.Ile2244Asn
XM_006721926.2:c.6794T>A	XP_006721989.1:p.Ile2265Asn
XM_006721927.1:c.6794T>A	XP_006721990.1:p.Ile2265Asn
XM_011524852.1:c.6791T>A	XP_011523154.1:p.Ile2264Asn
XM_011524853.1:c.6755T>A	XP_011523155.1:p.Ile2252Asn
XM_011524854.1:c.6755T>A	XP_011523156.1:p.Ile2252Asn
XM_011524855.1:c.6755T>A	XP_011523157.1:p.Ile2252Asn
XM_011524856.1:c.6755T>A	XP_011523158.1:p.Ile2252Asn
XM_011524857.1:c.6794T>A	XP_011523159.1:p.Ile2265Asn
NM_001042492.3:c.6764T>A MANE Select	NP_001035957.1:p.Ile2255Asn