Canonical Allele Identifier: CA212551
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359
dbSNP Id: rs267606604

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31336328A>G , CM000679.2:g.31336328A>G GRCh38
NC_000017.10:g.29663346A>G , CM000679.1:g.29663346A>G GRCh37
NC_000017.9:g.26687472A>G NCBI36
NG_009018.1:g.246352A>G , LRG_214:g.246352A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2195-5A>G ENSP00000492721.2:n.2195-5A>G
ENST00000696138.1:c.5989-5A>G ENSP00000512431.1:n.5989-5A>G
ENST00000684826.1:c.571-5A>G ENSP00000509994.1:n.571-5A>G
ENST00000684998.1:n.427A>G
ENST00000687027.1:c.163-5A>G ENSP00000508715.1:n.163-5A>G
ENST00000687863.1:n.2652-5A>G
ENST00000691014.1:c.6037-5A>G ENSP00000510595.1:n.6037-5A>G
ENST00000693617.1:c.571-5A>G ENSP00000510031.1:n.571-5A>G
ENST00000358273.9:c.6007-5A>G MANE Select ENSP00000351015.4:n.6007-5A>G
ENST00000356175.7:c.5944-5A>G ENSP00000348498.3:n.5944-5A>G
ENST00000358273.8:c.6007-5A>G ENSP00000351015.4:n.6007-5A>G
ENST00000456735.6:c.4942-5A>G ENSP00000389907.2:n.4942-5A>G
ENST00000479536.2:c.432-5A>G
ENST00000579081.5:c.6143-5A>G ENSP00000462408.1:n.6143-5A>G
ENST00000581113.6:n.1324-5A>G
NM_000267.3:c.5944-5A>G , LRG_214t1:c.5944-5A>G NP_000258.1:n.5944-5A>G
NM_001042492.2:c.6007-5A>G , LRG_214t2:c.6007-5A>G NP_001035957.1:n.6007-5A>G
XM_005257983.1:c.6007-5A>G XP_005258040.1:n.6007-5A>G
XM_005257984.1:c.5944-5A>G XP_005258041.1:n.5944-5A>G
XM_006721922.1:c.6037-5A>G XP_006721985.1:n.6037-5A>G
XM_006721923.2:c.5998-5A>G XP_006721986.1:n.5998-5A>G
XM_006721924.1:c.6037-5A>G XP_006721987.1:n.6037-5A>G
XM_006721925.1:c.5974-5A>G XP_006721988.1:n.5974-5A>G
XM_006721926.2:c.6037-5A>G XP_006721989.1:n.6037-5A>G
XM_006721927.1:c.6037-5A>G XP_006721990.1:n.6037-5A>G
XM_011524852.1:c.6034-5A>G XP_011523154.1:n.6034-5A>G
XM_011524853.1:c.5998-5A>G XP_011523155.1:n.5998-5A>G
XM_011524854.1:c.5998-5A>G XP_011523156.1:n.5998-5A>G
XM_011524855.1:c.5998-5A>G XP_011523157.1:n.5998-5A>G
XM_011524856.1:c.5998-5A>G XP_011523158.1:n.5998-5A>G
XM_011524857.1:c.6037-5A>G XP_011523159.1:n.6037-5A>G
NM_001042492.3:c.6007-5A>G MANE Select NP_001035957.1:n.6007-5A>G