Canonical Allele Identifier: CA414443542
Community Standard Title: NM_000133.4(F9):c.803G>C (p.Cys268Ser)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139560820G>C , CM000685.2:g.139560820G>C GRCh38
NC_000023.10:g.138642979G>C , CM000685.1:g.138642979G>C GRCh37
NC_000023.9:g.138470645G>C NCBI36
NG_007994.1:g.35085G>C , LRG_556:g.35085G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.803G>C MANE Select NP_000124.1:p.Cys268Ser
ENST00000218099.7:c.803G>C MANE Select ENSP00000218099.2:p.Cys268Ser
NM_000133.3:c.803G>C , LRG_556t1:c.803G>C NP_000124.1:p.Cys268Ser
NM_001313913.1:c.689G>C NP_001300842.1:p.Cys230Ser
NM_001313913.2:c.689G>C NP_001300842.1:p.Cys230Ser
ENST00000218099.6:c.803G>C ENSP00000218099.2:p.Cys268Ser
ENST00000394090.2:c.689G>C ENSP00000377650.2:p.Cys230Ser
ENST00000643157.1:n.1470G>C
XM_005262397.3:c.674G>C XP_005262454.1:p.Cys225Ser
XM_005262397.4:c.674G>C XP_005262454.1:p.Cys225Ser