Canonical Allele Identifier: CA255452
Community Standard Title: NM_000133.4(F9):c.1256T>A (p.Val419Glu)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561941T>A , CM000685.2:g.139561941T>A GRCh38
NC_000023.10:g.138644100T>A , CM000685.1:g.138644100T>A GRCh37
NC_000023.9:g.138471766T>A NCBI36
NG_007994.1:g.36206T>A , LRG_556:g.36206T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1256T>A MANE Select NP_000124.1:p.Val419Glu
ENST00000218099.7:c.1256T>A MANE Select ENSP00000218099.2:p.Val419Glu
NM_000133.3:c.1256T>A , LRG_556t1:c.1256T>A NP_000124.1:p.Val419Glu
NM_001313913.1:c.1142T>A NP_001300842.1:p.Val381Glu
NM_001313913.2:c.1142T>A NP_001300842.1:p.Val381Glu
ENST00000218099.6:c.1256T>A ENSP00000218099.2:p.Val419Glu
ENST00000394090.2:c.1142T>A ENSP00000377650.2:p.Val381Glu
ENST00000643157.1:n.1723+200T>A
XM_005262397.3:c.1127T>A XP_005262454.1:p.Val376Glu
XM_005262397.4:c.1127T>A XP_005262454.1:p.Val376Glu