Canonical Allele Identifier: CA414445556

Gene: F9

Linked Data

• dbSNP Id: rs1928112867
• MyVariant Identifiers: chrX:g.138643887T>G (hg19) ; chrX:g.139561728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561728T>G , CM000685.2:g.139561728T>G	GRCh38
NC_000023.10:g.138643887T>G , CM000685.1:g.138643887T>G	GRCh37
NC_000023.9:g.138471553T>G	NCBI36
NG_007994.1:g.35993T>G , LRG_556:g.35993T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1043T>G MANE Select	ENSP00000218099.2:p.Phe348Cys
ENST00000643157.1:n.1710T>G
ENST00000218099.6:c.1043T>G	ENSP00000218099.2:p.Phe348Cys
ENST00000394090.2:c.929T>G	ENSP00000377650.2:p.Phe310Cys
NM_000133.3:c.1043T>G , LRG_556t1:c.1043T>G	NP_000124.1:p.Phe348Cys
NM_001313913.1:c.929T>G	NP_001300842.1:p.Phe310Cys
XM_005262397.3:c.914T>G	XP_005262454.1:p.Phe305Cys
XM_005262397.4:c.914T>G	XP_005262454.1:p.Phe305Cys
NM_000133.4:c.1043T>G MANE Select	NP_000124.1:p.Phe348Cys
NM_001313913.2:c.929T>G	NP_001300842.1:p.Phe310Cys