Canonical Allele Identifier: CA2573153875
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494069
ClinVar RCV Id: RCV001986959
dbSNP Id: rs1060503909

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338696C>G , CM000679.2:g.31338696C>G GRCh38
NC_000017.10:g.29665714C>G , CM000679.1:g.29665714C>G GRCh37
NC_000017.9:g.26689840C>G NCBI36
NG_009018.1:g.248720C>G , LRG_214:g.248720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6802-8C>G ENSP00000512431.1:n.6802-8C>G
ENST00000684826.1:c.1384-8C>G ENSP00000509994.1:n.1384-8C>G
ENST00000684998.1:n.2634C>G
ENST00000687027.1:c.976-8C>G ENSP00000508715.1:n.976-8C>G
ENST00000687863.1:n.3465-8C>G
ENST00000691014.1:c.6850-8C>G ENSP00000510595.1:n.6850-8C>G
ENST00000693617.1:c.1384-8C>G ENSP00000510031.1:n.1384-8C>G
ENST00000358273.9:c.6820-8C>G MANE Select ENSP00000351015.4:n.6820-8C>G
ENST00000356175.7:c.6757-8C>G ENSP00000348498.3:n.6757-8C>G
ENST00000358273.8:c.6820-8C>G ENSP00000351015.4:n.6820-8C>G
ENST00000456735.6:c.5755-8C>G ENSP00000389907.2:n.5755-8C>G
ENST00000471572.6:c.203-8C>G
ENST00000579081.5:c.6956-8C>G ENSP00000462408.1:n.6956-8C>G
ENST00000581790.5:c.64+816C>G
ENST00000584328.1:n.234-8C>G
NM_000267.3:c.6757-8C>G , LRG_214t1:c.6757-8C>G NP_000258.1:n.6757-8C>G
NM_001042492.2:c.6820-8C>G , LRG_214t2:c.6820-8C>G NP_001035957.1:n.6820-8C>G
XM_005257983.1:c.6820-8C>G XP_005258040.1:n.6820-8C>G
XM_005257984.1:c.6757-8C>G XP_005258041.1:n.6757-8C>G
XM_006721922.1:c.6850-8C>G XP_006721985.1:n.6850-8C>G
XM_006721923.2:c.6811-8C>G XP_006721986.1:n.6811-8C>G
XM_006721924.1:c.6850-8C>G XP_006721987.1:n.6850-8C>G
XM_006721925.1:c.6787-8C>G XP_006721988.1:n.6787-8C>G
XM_006721926.2:c.6850-8C>G XP_006721989.1:n.6850-8C>G
XM_006721927.1:c.6850-8C>G XP_006721990.1:n.6850-8C>G
XM_011524852.1:c.6847-8C>G XP_011523154.1:n.6847-8C>G
XM_011524853.1:c.6811-8C>G XP_011523155.1:n.6811-8C>G
XM_011524854.1:c.6811-8C>G XP_011523156.1:n.6811-8C>G
XM_011524855.1:c.6811-8C>G XP_011523157.1:n.6811-8C>G
XM_011524856.1:c.6811-8C>G XP_011523158.1:n.6811-8C>G
XM_011524857.1:c.6850-8C>G XP_011523159.1:n.6850-8C>G
NM_001042492.3:c.6820-8C>G MANE Select NP_001035957.1:n.6820-8C>G