Canonical Allele Identifier: CA399205854
Community Standard Title: NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31374018G>A , CM000679.2:g.31374018G>A GRCh38
NC_000017.10:g.29701036G>A , CM000679.1:g.29701036G>A GRCh37
NC_000017.9:g.26725162G>A NCBI36
NG_009018.1:g.284042G>A , LRG_214:g.284042G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.8383G>A MANE Select NP_001035957.1:p.Asp2795Asn
ENST00000358273.9:c.8383G>A MANE Select ENSP00000351015.4:p.Asp2795Asn
NM_000267.3:c.8320G>A , LRG_214t1:c.8320G>A NP_000258.1:p.Asp2774Asn
NM_001042492.2:c.8383G>A , LRG_214t2:c.8383G>A NP_001035957.1:p.Asp2795Asn
ENST00000356175.7:c.8320G>A ENSP00000348498.3:p.Asp2774Asn
ENST00000358273.8:c.8383G>A ENSP00000351015.4:p.Asp2795Asn
ENST00000456735.6:c.7372G>A ENSP00000389907.2:p.Asp2458Asn
ENST00000471572.6:c.1766G>A
ENST00000579081.5:c.8519G>A ENSP00000462408.1:n.8519G>A
ENST00000684826.1:c.3001G>A ENSP00000509994.1:p.Asp1001Asn
ENST00000687027.1:c.2539G>A ENSP00000508715.1:p.Asp847Asn
ENST00000689464.1:c.1487G>A
ENST00000691014.1:c.8413G>A ENSP00000510595.1:p.Asp2805Asn
ENST00000693617.1:c.2947G>A ENSP00000510031.1:p.Asp983Asn
ENST00000696138.1:c.*18G>A ENSP00000512431.1:n.*18G>A
XM_005257983.1:c.8437G>A XP_005258040.1:p.Asp2813Asn
XM_005257984.1:c.8374G>A XP_005258041.1:p.Asp2792Asn
XM_006721922.1:c.8467G>A XP_006721985.1:p.Asp2823Asn
XM_006721923.2:c.8428G>A XP_006721986.1:p.Asp2810Asn
XM_006721924.1:c.8413G>A XP_006721987.1:p.Asp2805Asn
XM_006721925.1:c.8404G>A XP_006721988.1:p.Asp2802Asn
XM_006721926.2:c.*18G>A XP_006721989.1:n.*18G>A
XM_011524852.1:c.8464G>A XP_011523154.1:p.Asp2822Asn
XM_011524853.1:c.8428G>A XP_011523155.1:p.Asp2810Asn
XM_011524854.1:c.8428G>A XP_011523156.1:p.Asp2810Asn
XM_011524855.1:c.8428G>A XP_011523157.1:p.Asp2810Asn
XM_011524856.1:c.8428G>A XP_011523158.1:p.Asp2810Asn
XM_011524857.1:c.8344G>A XP_011523159.1:p.Asp2782Asn