Canonical Allele Identifier: CA398986497
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457613
dbSNP Id: rs1060500273

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31230259G>C , CM000679.2:g.31230259G>C GRCh38
NC_000017.10:g.29557277G>C , CM000679.1:g.29557277G>C GRCh37
NC_000017.9:g.26581403G>C NCBI36
NG_009018.1:g.140283G>C , LRG_214:g.140283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3036-1G>C ENSP00000512431.1:n.3036-1G>C
ENST00000696139.1:c.336-1G>C ENSP00000512432.1:n.336-1G>C
ENST00000691014.1:c.3021-1G>C ENSP00000510595.1:n.3021-1G>C
ENST00000358273.9:c.2991-1G>C MANE Select ENSP00000351015.4:n.2991-1G>C
ENST00000356175.7:c.2991-1G>C ENSP00000348498.3:n.2991-1G>C
ENST00000358273.8:c.2991-1G>C ENSP00000351015.4:n.2991-1G>C
ENST00000456735.6:c.1989-1G>C ENSP00000389907.2:n.1989-1G>C
ENST00000493220.5:n.1527-1G>C
ENST00000495910.6:c.2766-1G>C
ENST00000579081.5:c.3093-1G>C ENSP00000462408.1:n.3093-1G>C
NM_000267.3:c.2991-1G>C , LRG_214t1:c.2991-1G>C NP_000258.1:n.2991-1G>C
NM_001042492.2:c.2991-1G>C , LRG_214t2:c.2991-1G>C NP_001035957.1:n.2991-1G>C
XM_005257983.1:c.2991-1G>C XP_005258040.1:n.2991-1G>C
XM_005257984.1:c.2991-1G>C XP_005258041.1:n.2991-1G>C
XM_006721922.1:c.3021-1G>C XP_006721985.1:n.3021-1G>C
XM_006721923.2:c.2982-1G>C XP_006721986.1:n.2982-1G>C
XM_006721924.1:c.3021-1G>C XP_006721987.1:n.3021-1G>C
XM_006721925.1:c.3021-1G>C XP_006721988.1:n.3021-1G>C
XM_006721926.2:c.3021-1G>C XP_006721989.1:n.3021-1G>C
XM_006721927.1:c.3021-1G>C XP_006721990.1:n.3021-1G>C
XM_006721928.2:c.3021-1G>C XP_006721991.1:n.3021-1G>C
XM_011524852.1:c.3018-1G>C XP_011523154.1:n.3018-1G>C
XM_011524853.1:c.2982-1G>C XP_011523155.1:n.2982-1G>C
XM_011524854.1:c.2982-1G>C XP_011523156.1:n.2982-1G>C
XM_011524855.1:c.2982-1G>C XP_011523157.1:n.2982-1G>C
XM_011524856.1:c.2982-1G>C XP_011523158.1:n.2982-1G>C
XM_011524857.1:c.3021-1G>C XP_011523159.1:n.3021-1G>C
NM_001042492.3:c.2991-1G>C MANE Select NP_001035957.1:n.2991-1G>C