Canonical Allele Identifier: CA399203870
Community Standard Title: NM_001042492.3(NF1):c.8073T>A (p.His2691Gln)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31358582T>A , CM000679.2:g.31358582T>A GRCh38
NC_000017.10:g.29685600T>A , CM000679.1:g.29685600T>A GRCh37
NC_000017.9:g.26709726T>A NCBI36
NG_009018.1:g.268606T>A , LRG_214:g.268606T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.8073T>A MANE Select NP_001035957.1:p.His2691Gln
ENST00000358273.9:c.8073T>A MANE Select ENSP00000351015.4:p.His2691Gln
NM_000267.3:c.8010T>A , LRG_214t1:c.8010T>A NP_000258.1:p.His2670Gln
NM_001042492.2:c.8073T>A , LRG_214t2:c.8073T>A NP_001035957.1:p.His2691Gln
ENST00000356175.7:c.8010T>A ENSP00000348498.3:p.His2670Gln
ENST00000358273.8:c.8073T>A ENSP00000351015.4:p.His2691Gln
ENST00000456735.6:c.7008T>A ENSP00000389907.2:p.His2336Gln
ENST00000468273.1:c.35T>A
ENST00000471572.6:c.1456T>A
ENST00000577967.1:n.2779T>A
ENST00000579081.5:c.8209T>A ENSP00000462408.1:n.8209T>A
ENST00000581790.5:c.1058T>A
ENST00000684826.1:c.2637T>A ENSP00000509994.1:p.His879Gln
ENST00000687027.1:c.2229T>A ENSP00000508715.1:p.His743Gln
ENST00000687863.1:n.4718T>A
ENST00000689464.1:c.1123T>A
ENST00000691014.1:c.8103T>A ENSP00000510595.1:p.His2701Gln
ENST00000693617.1:c.2637T>A ENSP00000510031.1:p.His879Gln
ENST00000696138.1:c.8055T>A ENSP00000512431.1:p.His2685Gln
XM_005257983.1:c.8073T>A XP_005258040.1:p.His2691Gln
XM_005257984.1:c.8010T>A XP_005258041.1:p.His2670Gln
XM_006721922.1:c.8103T>A XP_006721985.1:p.His2701Gln
XM_006721923.2:c.8064T>A XP_006721986.1:p.His2688Gln
XM_006721924.1:c.8103T>A XP_006721987.1:p.His2701Gln
XM_006721925.1:c.8040T>A XP_006721988.1:p.His2680Gln
XM_006721926.2:c.8103T>A XP_006721989.1:p.His2701Gln
XM_006721927.1:c.8103T>A XP_006721990.1:p.His2701Gln
XM_011524852.1:c.8100T>A XP_011523154.1:p.His2700Gln
XM_011524853.1:c.8064T>A XP_011523155.1:p.His2688Gln
XM_011524854.1:c.8064T>A XP_011523156.1:p.His2688Gln
XM_011524855.1:c.8064T>A XP_011523157.1:p.His2688Gln
XM_011524856.1:c.8064T>A XP_011523158.1:p.His2688Gln
XM_011524857.1:c.7980T>A XP_011523159.1:p.His2660Gln