Canonical Allele Identifier: CA414446295
Community Standard Title: NM_000133.4(F9):c.1169T>A (p.Ile390Asn)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561854T>A , CM000685.2:g.139561854T>A GRCh38
NC_000023.10:g.138644013T>A , CM000685.1:g.138644013T>A GRCh37
NC_000023.9:g.138471679T>A NCBI36
NG_007994.1:g.36119T>A , LRG_556:g.36119T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1169T>A MANE Select NP_000124.1:p.Ile390Asn
ENST00000218099.7:c.1169T>A MANE Select ENSP00000218099.2:p.Ile390Asn
NM_000133.3:c.1169T>A , LRG_556t1:c.1169T>A NP_000124.1:p.Ile390Asn
NM_001313913.1:c.1055T>A NP_001300842.1:p.Ile352Asn
NM_001313913.2:c.1055T>A NP_001300842.1:p.Ile352Asn
ENST00000218099.6:c.1169T>A ENSP00000218099.2:p.Ile390Asn
ENST00000394090.2:c.1055T>A ENSP00000377650.2:p.Ile352Asn
ENST00000643157.1:n.1723+113T>A
XM_005262397.3:c.1040T>A XP_005262454.1:p.Ile347Asn
XM_005262397.4:c.1040T>A XP_005262454.1:p.Ile347Asn