Canonical Allele Identifier: CA1139665303
Community Standard Title: NM_001042492.3(NF1):c.7971-321C>G
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31358159C>G , CM000679.2:g.31358159C>G GRCh38
NC_000017.10:g.29685177C>G , CM000679.1:g.29685177C>G GRCh37
NC_000017.9:g.26709303C>G NCBI36
NG_009018.1:g.268183C>G , LRG_214:g.268183C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.7971-321C>G MANE Select NP_001035957.1:n.7971-321C>G
ENST00000358273.9:c.7971-321C>G MANE Select ENSP00000351015.4:n.7971-321C>G
NM_000267.3:c.7908-321C>G , LRG_214t1:c.7908-321C>G NP_000258.1:n.7908-321C>G
NM_001042492.2:c.7971-321C>G , LRG_214t2:c.7971-321C>G NP_001035957.1:n.7971-321C>G
ENST00000356175.7:c.7908-321C>G ENSP00000348498.3:n.7908-321C>G
ENST00000358273.8:c.7971-321C>G ENSP00000351015.4:n.7971-321C>G
ENST00000456735.6:c.6906-321C>G ENSP00000389907.2:n.6906-321C>G
ENST00000471572.6:c.1354-321C>G
ENST00000577967.1:n.2356C>G
ENST00000579081.5:c.8107-321C>G ENSP00000462408.1:n.8107-321C>G
ENST00000581790.5:c.956-321C>G
ENST00000684826.1:c.2535-321C>G ENSP00000509994.1:n.2535-321C>G
ENST00000687027.1:c.2127-321C>G ENSP00000508715.1:n.2127-321C>G
ENST00000687863.1:n.4616-321C>G
ENST00000689464.1:c.1021-321C>G
ENST00000691014.1:c.8001-321C>G ENSP00000510595.1:n.8001-321C>G
ENST00000693617.1:c.2535-321C>G ENSP00000510031.1:n.2535-321C>G
ENST00000696138.1:c.7953-321C>G ENSP00000512431.1:n.7953-321C>G
XM_005257983.1:c.7971-321C>G XP_005258040.1:n.7971-321C>G
XM_005257984.1:c.7908-321C>G XP_005258041.1:n.7908-321C>G
XM_006721922.1:c.8001-321C>G XP_006721985.1:n.8001-321C>G
XM_006721923.2:c.7962-321C>G XP_006721986.1:n.7962-321C>G
XM_006721924.1:c.8001-321C>G XP_006721987.1:n.8001-321C>G
XM_006721925.1:c.7938-321C>G XP_006721988.1:n.7938-321C>G
XM_006721926.2:c.8001-321C>G XP_006721989.1:n.8001-321C>G
XM_006721927.1:c.8001-321C>G XP_006721990.1:n.8001-321C>G
XM_011524852.1:c.7998-321C>G XP_011523154.1:n.7998-321C>G
XM_011524853.1:c.7962-321C>G XP_011523155.1:n.7962-321C>G
XM_011524854.1:c.7962-321C>G XP_011523156.1:n.7962-321C>G
XM_011524855.1:c.7962-321C>G XP_011523157.1:n.7962-321C>G
XM_011524856.1:c.7962-321C>G XP_011523158.1:n.7962-321C>G
XM_011524857.1:c.7878-321C>G XP_011523159.1:n.7878-321C>G