Canonical Allele Identifier: CA336137420

Gene: F9

Linked Data

• ClinVar Variation Id: 2184672
• ClinVar RCV Id: RCV002632292
• dbSNP Id: rs374674030
• gnomAD v2: X-138633284-T-G
• gnomAD v3: X-139551125-T-G
• gnomAD v4: X-139551125-T-G
• MyVariant Identifiers: chrX:g.138633284T>G (hg19) ; chrX:g.139551125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551125T>G , CM000685.2:g.139551125T>G	GRCh38
NC_000023.10:g.138633284T>G , CM000685.1:g.138633284T>G	GRCh37
NC_000023.9:g.138460950T>G	NCBI36
NG_007994.1:g.25390T>G , LRG_556:g.25390T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.584T>G MANE Select	ENSP00000218099.2:p.Val195Gly
ENST00000643157.1:n.1251T>G
ENST00000218099.6:c.584T>G	ENSP00000218099.2:p.Val195Gly
ENST00000394090.2:c.470T>G	ENSP00000377650.2:p.Val157Gly
NM_000133.3:c.584T>G , LRG_556t1:c.584T>G	NP_000124.1:p.Val195Gly
NM_001313913.1:c.470T>G	NP_001300842.1:p.Val157Gly
XM_005262397.3:c.455T>G	XP_005262454.1:p.Val152Gly
XM_005262397.4:c.455T>G	XP_005262454.1:p.Val152Gly
NM_000133.4:c.584T>G MANE Select	NP_000124.1:p.Val195Gly
NM_001313913.2:c.470T>G	NP_001300842.1:p.Val157Gly