Canonical Allele Identifier: CA399011470
Community Standard Title: NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31336450A>G , CM000679.2:g.31336450A>G GRCh38
NC_000017.10:g.29663468A>G , CM000679.1:g.29663468A>G GRCh37
NC_000017.9:g.26687594A>G NCBI36
NG_009018.1:g.246474A>G , LRG_214:g.246474A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.6124A>G MANE Select NP_001035957.1:p.Asn2042Asp
ENST00000358273.9:c.6124A>G MANE Select ENSP00000351015.4:p.Asn2042Asp
NM_000267.3:c.6061A>G , LRG_214t1:c.6061A>G NP_000258.1:p.Asn2021Asp
NM_001042492.2:c.6124A>G , LRG_214t2:c.6124A>G NP_001035957.1:p.Asn2042Asp
ENST00000356175.7:c.6061A>G ENSP00000348498.3:p.Asn2021Asp
ENST00000358273.8:c.6124A>G ENSP00000351015.4:p.Asn2042Asp
ENST00000456735.6:c.5059A>G ENSP00000389907.2:p.Asn1687Asp
ENST00000479536.2:c.549A>G
ENST00000579081.5:c.6260A>G ENSP00000462408.1:n.6260A>G
ENST00000581113.6:n.1441A>G
ENST00000581113.7:c.2312A>G ENSP00000492721.2:n.2312A>G
ENST00000684826.1:c.688A>G ENSP00000509994.1:p.Asn230Asp
ENST00000684998.1:n.549A>G
ENST00000687027.1:c.280A>G ENSP00000508715.1:p.Asn94Asp
ENST00000687863.1:n.2769A>G
ENST00000691014.1:c.6154A>G ENSP00000510595.1:p.Asn2052Asp
ENST00000693617.1:c.688A>G ENSP00000510031.1:p.Asn230Asp
ENST00000696138.1:c.6106A>G ENSP00000512431.1:p.Asn2036Asp
XM_005257983.1:c.6124A>G XP_005258040.1:p.Asn2042Asp
XM_005257984.1:c.6061A>G XP_005258041.1:p.Asn2021Asp
XM_006721922.1:c.6154A>G XP_006721985.1:p.Asn2052Asp
XM_006721923.2:c.6115A>G XP_006721986.1:p.Asn2039Asp
XM_006721924.1:c.6154A>G XP_006721987.1:p.Asn2052Asp
XM_006721925.1:c.6091A>G XP_006721988.1:p.Asn2031Asp
XM_006721926.2:c.6154A>G XP_006721989.1:p.Asn2052Asp
XM_006721927.1:c.6154A>G XP_006721990.1:p.Asn2052Asp
XM_011524852.1:c.6151A>G XP_011523154.1:p.Asn2051Asp
XM_011524853.1:c.6115A>G XP_011523155.1:p.Asn2039Asp
XM_011524854.1:c.6115A>G XP_011523156.1:p.Asn2039Asp
XM_011524855.1:c.6115A>G XP_011523157.1:p.Asn2039Asp
XM_011524856.1:c.6115A>G XP_011523158.1:p.Asn2039Asp
XM_011524857.1:c.6154A>G XP_011523159.1:p.Asn2052Asp