Canonical Allele Identifier: CA414447219
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 811512
ClinVar RCV Id: RCV001001426
dbSNP Id: rs1385141619
MyVariant Identifiers: chrX:g.138644148G>A (hg19) chrX:g.139561989G>A (hg38)
ERepo: CA414447219/MONDO:0010604/080
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561989G>A , CM000685.2:g.139561989G>A GRCh38
NC_000023.10:g.138644148G>A , CM000685.1:g.138644148G>A GRCh37
NC_000023.9:g.138471814G>A NCBI36
NG_007994.1:g.36254G>A , LRG_556:g.36254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.1304G>A MANE Select ENSP00000218099.2:p.Cys435Tyr
ENST00000643157.1:n.1723+248G>A
ENST00000218099.6:c.1304G>A ENSP00000218099.2:p.Cys435Tyr
ENST00000394090.2:c.1190G>A ENSP00000377650.2:p.Cys397Tyr
NM_000133.3:c.1304G>A , LRG_556t1:c.1304G>A NP_000124.1:p.Cys435Tyr
NM_001313913.1:c.1190G>A NP_001300842.1:p.Cys397Tyr
XM_005262397.3:c.1175G>A XP_005262454.1:p.Cys392Tyr
XM_005262397.4:c.1175G>A XP_005262454.1:p.Cys392Tyr
NM_000133.4:c.1304G>A MANE Select NP_000124.1:p.Cys435Tyr
NM_001313913.2:c.1190G>A NP_001300842.1:p.Cys397Tyr
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