Canonical Allele Identifier: CA10529810

Gene: F9

Linked Data

• ClinVar Variation Id: 700019
• ClinVar RCV Id: RCV000868038 ; RCV001825736
• dbSNP Id: rs762986355
• ExAC: X:138633223 C / T
• gnomAD v2: X-138633223-C-T
• gnomAD v3: X-139551064-C-T
• gnomAD v4: X-139551064-C-T
• MyVariant Identifiers: chrX:g.138633223C>T (hg19) ; chrX:g.139551064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551064C>T , CM000685.2:g.139551064C>T	GRCh38
NC_000023.10:g.138633223C>T , CM000685.1:g.138633223C>T	GRCh37
NC_000023.9:g.138460889C>T	NCBI36
NG_007994.1:g.25329C>T , LRG_556:g.25329C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.523C>T MANE Select	ENSP00000218099.2:p.Pro175Ser
ENST00000643157.1:n.1190C>T
ENST00000218099.6:c.523C>T	ENSP00000218099.2:p.Pro175Ser
ENST00000394090.2:c.409C>T	ENSP00000377650.2:p.Pro137Ser
NM_000133.3:c.523C>T , LRG_556t1:c.523C>T	NP_000124.1:p.Pro175Ser
NM_001313913.1:c.409C>T	NP_001300842.1:p.Pro137Ser
XM_005262397.3:c.394C>T	XP_005262454.1:p.Pro132Ser
XM_005262397.4:c.394C>T	XP_005262454.1:p.Pro132Ser
NM_000133.4:c.523C>T MANE Select	NP_000124.1:p.Pro175Ser
NM_001313913.2:c.409C>T	NP_001300842.1:p.Pro137Ser