Canonical Allele Identifier: CA414445330

Gene: F9

Linked Data

• ClinVar Variation Id: 973811
• ClinVar RCV Id: RCV001265097
• dbSNP Id: rs1928110579
• MyVariant Identifiers: chrX:g.138643849C>G (hg19) ; chrX:g.139561690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561690C>G , CM000685.2:g.139561690C>G	GRCh38
NC_000023.10:g.138643849C>G , CM000685.1:g.138643849C>G	GRCh37
NC_000023.9:g.138471515C>G	NCBI36
NG_007994.1:g.35955C>G , LRG_556:g.35955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1005C>G MANE Select	ENSP00000218099.2:p.Cys335Trp
ENST00000643157.1:n.1672C>G
ENST00000218099.6:c.1005C>G	ENSP00000218099.2:p.Cys335Trp
ENST00000394090.2:c.891C>G	ENSP00000377650.2:p.Cys297Trp
NM_000133.3:c.1005C>G , LRG_556t1:c.1005C>G	NP_000124.1:p.Cys335Trp
NM_001313913.1:c.891C>G	NP_001300842.1:p.Cys297Trp
XM_005262397.3:c.876C>G	XP_005262454.1:p.Cys292Trp
XM_005262397.4:c.876C>G	XP_005262454.1:p.Cys292Trp
NM_000133.4:c.1005C>G MANE Select	NP_000124.1:p.Cys335Trp
NM_001313913.2:c.891C>G	NP_001300842.1:p.Cys297Trp