Canonical Allele Identifier: CA414436226
Community Standard Title: NM_000133.4(F9):c.236A>T (p.Glu79Val)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139537157A>T , CM000685.2:g.139537157A>T GRCh38
NC_000023.10:g.138619316A>T , CM000685.1:g.138619316A>T GRCh37
NC_000023.9:g.138446982A>T NCBI36
NG_007994.1:g.11422A>T , LRG_556:g.11422A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.236A>T MANE Select NP_000124.1:p.Glu79Val
ENST00000218099.7:c.236A>T MANE Select ENSP00000218099.2:p.Glu79Val
NM_000133.3:c.236A>T , LRG_556t1:c.236A>T NP_000124.1:p.Glu79Val
NM_001313913.1:c.236A>T NP_001300842.1:p.Glu79Val
NM_001313913.2:c.236A>T NP_001300842.1:p.Glu79Val
ENST00000218099.6:c.236A>T ENSP00000218099.2:p.Glu79Val
ENST00000394090.2:c.236A>T ENSP00000377650.2:p.Glu79Val
ENST00000479617.2:n.241+2A>T
XM_005262397.3:c.236A>T XP_005262454.1:p.Glu79Val
XM_005262397.4:c.236A>T XP_005262454.1:p.Glu79Val