Canonical Allele Identifier: CA399203390
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31357287A>T , CM000679.2:g.31357287A>T GRCh38
NC_000017.10:g.29684305A>T , CM000679.1:g.29684305A>T GRCh37
NC_000017.9:g.26708431A>T NCBI36
NG_009018.1:g.267311A>T , LRG_214:g.267311A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7870A>T ENSP00000512431.1:p.Thr2624Ser
ENST00000684826.1:c.2452A>T ENSP00000509994.1:p.Thr818Ser
ENST00000687027.1:c.2044A>T ENSP00000508715.1:p.Thr682Ser
ENST00000687863.1:n.4533A>T
ENST00000689464.1:c.938A>T
ENST00000691014.1:c.7918A>T ENSP00000510595.1:p.Thr2640Ser
ENST00000693617.1:c.2452A>T ENSP00000510031.1:p.Thr818Ser
ENST00000358273.9:c.7888A>T MANE Select ENSP00000351015.4:p.Thr2630Ser
ENST00000356175.7:c.7825A>T ENSP00000348498.3:p.Thr2609Ser
ENST00000358273.8:c.7888A>T ENSP00000351015.4:p.Thr2630Ser
ENST00000456735.6:c.6823A>T ENSP00000389907.2:p.Thr2275Ser
ENST00000471572.6:c.1271A>T
ENST00000577967.1:n.1484A>T
ENST00000579081.5:c.8024A>T ENSP00000462408.1:n.8024A>T
ENST00000581790.5:c.873A>T
NM_000267.3:c.7825A>T , LRG_214t1:c.7825A>T NP_000258.1:p.Thr2609Ser
NM_001042492.2:c.7888A>T , LRG_214t2:c.7888A>T NP_001035957.1:p.Thr2630Ser
XM_005257983.1:c.7888A>T XP_005258040.1:p.Thr2630Ser
XM_005257984.1:c.7825A>T XP_005258041.1:p.Thr2609Ser
XM_006721922.1:c.7918A>T XP_006721985.1:p.Thr2640Ser
XM_006721923.2:c.7879A>T XP_006721986.1:p.Thr2627Ser
XM_006721924.1:c.7918A>T XP_006721987.1:p.Thr2640Ser
XM_006721925.1:c.7855A>T XP_006721988.1:p.Thr2619Ser
XM_006721926.2:c.7918A>T XP_006721989.1:p.Thr2640Ser
XM_006721927.1:c.7918A>T XP_006721990.1:p.Thr2640Ser
XM_011524852.1:c.7915A>T XP_011523154.1:p.Thr2639Ser
XM_011524853.1:c.7879A>T XP_011523155.1:p.Thr2627Ser
XM_011524854.1:c.7879A>T XP_011523156.1:p.Thr2627Ser
XM_011524855.1:c.7879A>T XP_011523157.1:p.Thr2627Ser
XM_011524856.1:c.7879A>T XP_011523158.1:p.Thr2627Ser
XM_011524857.1:c.7795A>T XP_011523159.1:p.Thr2599Ser
NM_001042492.3:c.7888A>T MANE Select NP_001035957.1:p.Thr2630Ser