Canonical Allele Identifier: CA10529866

Gene: F9

Linked Data

• ClinVar Variation Id: 1685803
• ClinVar RCV Id: RCV002249970 ; RCV003101343
• dbSNP Id: rs147567879
• ExAC: X:138643892 T / G
• gnomAD v2: X-138643892-T-G
• gnomAD v3: X-139561733-T-G
• gnomAD v4: X-139561733-T-G
• MyVariant Identifiers: chrX:g.138643892T>G (hg19) ; chrX:g.139561733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561733T>G , CM000685.2:g.139561733T>G	GRCh38
NC_000023.10:g.138643892T>G , CM000685.1:g.138643892T>G	GRCh37
NC_000023.9:g.138471558T>G	NCBI36
NG_007994.1:g.35998T>G , LRG_556:g.35998T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1048T>G MANE Select	ENSP00000218099.2:p.Ser350Ala
ENST00000643157.1:n.1715T>G
ENST00000218099.6:c.1048T>G	ENSP00000218099.2:p.Ser350Ala
ENST00000394090.2:c.934T>G	ENSP00000377650.2:p.Ser312Ala
NM_000133.3:c.1048T>G , LRG_556t1:c.1048T>G	NP_000124.1:p.Ser350Ala
NM_001313913.1:c.934T>G	NP_001300842.1:p.Ser312Ala
XM_005262397.3:c.919T>G	XP_005262454.1:p.Ser307Ala
XM_005262397.4:c.919T>G	XP_005262454.1:p.Ser307Ala
NM_000133.4:c.1048T>G MANE Select	NP_000124.1:p.Ser350Ala
NM_001313913.2:c.934T>G	NP_001300842.1:p.Ser312Ala