Canonical Allele Identifier: CA414447141
Community Standard Title: NM_000133.4(F9):c.1292G>T (p.Trp431Leu)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561977G>T , CM000685.2:g.139561977G>T GRCh38
NC_000023.10:g.138644136G>T , CM000685.1:g.138644136G>T GRCh37
NC_000023.9:g.138471802G>T NCBI36
NG_007994.1:g.36242G>T , LRG_556:g.36242G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1292G>T MANE Select NP_000124.1:p.Trp431Leu
ENST00000218099.7:c.1292G>T MANE Select ENSP00000218099.2:p.Trp431Leu
NM_000133.3:c.1292G>T , LRG_556t1:c.1292G>T NP_000124.1:p.Trp431Leu
NM_001313913.1:c.1178G>T NP_001300842.1:p.Trp393Leu
NM_001313913.2:c.1178G>T NP_001300842.1:p.Trp393Leu
ENST00000218099.6:c.1292G>T ENSP00000218099.2:p.Trp431Leu
ENST00000394090.2:c.1178G>T ENSP00000377650.2:p.Trp393Leu
ENST00000643157.1:n.1723+236G>T
XM_005262397.3:c.1163G>T XP_005262454.1:p.Trp388Leu
XM_005262397.4:c.1163G>T XP_005262454.1:p.Trp388Leu