Canonical Allele Identifier: CA399000689
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457713
dbSNP Id: rs1555619056

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261858G>A , CM000679.2:g.31261858G>A GRCh38
NC_000017.10:g.29588876G>A , CM000679.1:g.29588876G>A GRCh37
NC_000017.9:g.26613002G>A NCBI36
NG_009018.1:g.171882G>A , LRG_214:g.171882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.526+1G>A ENSP00000492721.2:n.526+1G>A
ENST00000696138.1:c.4706+1G>A ENSP00000512431.1:n.4706+1G>A
ENST00000696140.1:n.830+1G>A
ENST00000696141.1:c.715+1G>A
ENST00000687863.1:n.1369+1G>A
ENST00000691014.1:c.4754+1G>A ENSP00000510595.1:n.4754+1G>A
ENST00000358273.9:c.4724+1G>A MANE Select ENSP00000351015.4:n.4724+1G>A
ENST00000356175.7:c.4661+1G>A ENSP00000348498.3:n.4661+1G>A
ENST00000358273.8:c.4724+1G>A ENSP00000351015.4:n.4724+1G>A
ENST00000456735.6:c.3659+1G>A ENSP00000389907.2:n.3659+1G>A
ENST00000493220.5:n.3197+1G>A
ENST00000579081.5:c.4763+1G>A ENSP00000462408.1:n.4763+1G>A
NM_000267.3:c.4661+1G>A , LRG_214t1:c.4661+1G>A NP_000258.1:n.4661+1G>A
NM_001042492.2:c.4724+1G>A , LRG_214t2:c.4724+1G>A NP_001035957.1:n.4724+1G>A
XM_005257983.1:c.4724+1G>A XP_005258040.1:n.4724+1G>A
XM_005257984.1:c.4661+1G>A XP_005258041.1:n.4661+1G>A
XM_006721922.1:c.4754+1G>A XP_006721985.1:n.4754+1G>A
XM_006721923.2:c.4715+1G>A XP_006721986.1:n.4715+1G>A
XM_006721924.1:c.4754+1G>A XP_006721987.1:n.4754+1G>A
XM_006721925.1:c.4691+1G>A XP_006721988.1:n.4691+1G>A
XM_006721926.2:c.4754+1G>A XP_006721989.1:n.4754+1G>A
XM_006721927.1:c.4754+1G>A XP_006721990.1:n.4754+1G>A
XM_006721928.2:c.4754+1G>A XP_006721991.1:n.4754+1G>A
XM_011524852.1:c.4751+1G>A XP_011523154.1:n.4751+1G>A
XM_011524853.1:c.4715+1G>A XP_011523155.1:n.4715+1G>A
XM_011524854.1:c.4715+1G>A XP_011523156.1:n.4715+1G>A
XM_011524855.1:c.4715+1G>A XP_011523157.1:n.4715+1G>A
XM_011524856.1:c.4715+1G>A XP_011523158.1:n.4715+1G>A
XM_011524857.1:c.4754+1G>A XP_011523159.1:n.4754+1G>A
NM_001042492.3:c.4724+1G>A MANE Select NP_001035957.1:n.4724+1G>A