Canonical Allele Identifier: CA10529821
Community Standard Title: NM_000133.4(F9):c.712T>G (p.Phe238Val)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139551253T>G , CM000685.2:g.139551253T>G GRCh38
NC_000023.10:g.138633412T>G , CM000685.1:g.138633412T>G GRCh37
NC_000023.9:g.138461078T>G NCBI36
NG_007994.1:g.25518T>G , LRG_556:g.25518T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.712T>G MANE Select NP_000124.1:p.Phe238Val
ENST00000218099.7:c.712T>G MANE Select ENSP00000218099.2:p.Phe238Val
NM_000133.3:c.712T>G , LRG_556t1:c.712T>G NP_000124.1:p.Phe238Val
NM_001313913.1:c.598T>G NP_001300842.1:p.Phe200Val
NM_001313913.2:c.598T>G NP_001300842.1:p.Phe200Val
ENST00000218099.6:c.712T>G ENSP00000218099.2:p.Phe238Val
ENST00000394090.2:c.598T>G ENSP00000377650.2:p.Phe200Val
ENST00000643157.1:n.1379T>G
XM_005262397.3:c.583T>G XP_005262454.1:p.Phe195Val
XM_005262397.4:c.583T>G XP_005262454.1:p.Phe195Val