Canonical Allele Identifier: CA2461412247
Community Standard Title: NM_000133.4(F9):c.1240C= (p.Pro414=)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561925C= , CM000685.2:g.139561925C= GRCh38
NC_000023.10:g.138644084C= , CM000685.1:g.138644084C= GRCh37
NC_000023.9:g.138471750C= NCBI36
NG_007994.1:g.36190C= , LRG_556:g.36190C=

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1240C= MANE Select NP_000124.1:p.Pro414=
ENST00000218099.7:c.1240C= MANE Select ENSP00000218099.2:p.Pro414=
NM_000133.3:c.1240C= , LRG_556t1:c.1240C= NP_000124.1:p.Pro414=
NM_001313913.1:c.1126C= NP_001300842.1:p.Pro376=
NM_001313913.2:c.1126C= NP_001300842.1:p.Pro376=
ENST00000218099.6:c.1240C= ENSP00000218099.2:p.Pro414=
ENST00000394090.2:c.1126C= ENSP00000377650.2:p.Pro376=
ENST00000643157.1:n.1723+184C=
XM_005262397.3:c.1111C= XP_005262454.1:p.Pro371=
XM_005262397.4:c.1111C= XP_005262454.1:p.Pro371=