Canonical Allele Identifier: CA255427

Gene: F9

Linked Data

• ClinVar Variation Id: 10639
• ClinVar RCV Id: RCV000011385 ; RCV001001418
• dbSNP Id: rs137852271
• MyVariant Identifiers: chrX:g.138643964G>T (hg19) ; chrX:g.139561805G>T (hg38)
• PubMed: PMID:1998585

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561805G>T , CM000685.2:g.139561805G>T	GRCh38
NC_000023.10:g.138643964G>T , CM000685.1:g.138643964G>T	GRCh37
NC_000023.9:g.138471630G>T	NCBI36
NG_007994.1:g.36070G>T , LRG_556:g.36070G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1120G>T MANE Select	ENSP00000218099.2:p.Val374Phe
ENST00000643157.1:n.1723+64G>T
ENST00000218099.6:c.1120G>T	ENSP00000218099.2:p.Val374Phe
ENST00000394090.2:c.1006G>T	ENSP00000377650.2:p.Val336Phe
NM_000133.3:c.1120G>T , LRG_556t1:c.1120G>T	NP_000124.1:p.Val374Phe
NM_001313913.1:c.1006G>T	NP_001300842.1:p.Val336Phe
XM_005262397.3:c.991G>T	XP_005262454.1:p.Val331Phe
XM_005262397.4:c.991G>T	XP_005262454.1:p.Val331Phe
NM_000133.4:c.1120G>T MANE Select	NP_000124.1:p.Val374Phe
NM_001313913.2:c.1006G>T	NP_001300842.1:p.Val336Phe