Canonical Allele Identifier: CA2461412219
Community Standard Title: NM_000133.4(F9):c.1189G= (p.Ala397=)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561874G= , CM000685.2:g.139561874G= GRCh38
NC_000023.10:g.138644033G= , CM000685.1:g.138644033G= GRCh37
NC_000023.9:g.138471699G= NCBI36
NG_007994.1:g.36139G= , LRG_556:g.36139G=

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1189G= MANE Select NP_000124.1:p.Ala397=
ENST00000218099.7:c.1189G= MANE Select ENSP00000218099.2:p.Ala397=
NM_000133.3:c.1189G= , LRG_556t1:c.1189G= NP_000124.1:p.Ala397=
NM_001313913.1:c.1075G= NP_001300842.1:p.Ala359=
NM_001313913.2:c.1075G= NP_001300842.1:p.Ala359=
ENST00000218099.6:c.1189G= ENSP00000218099.2:p.Ala397=
ENST00000394090.2:c.1075G= ENSP00000377650.2:p.Ala359=
ENST00000643157.1:n.1723+133G=
XM_005262397.3:c.1060G= XP_005262454.1:p.Ala354=
XM_005262397.4:c.1060G= XP_005262454.1:p.Ala354=