Canonical Allele Identifier: CA414444584

Gene: F9

Linked Data

• ClinVar Variation Id: 1992374
• ClinVar RCV Id: RCV002776557
• MyVariant Identifiers: chrX:g.138643715G>C (hg19) ; chrX:g.139561556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561556G>C , CM000685.2:g.139561556G>C	GRCh38
NC_000023.10:g.138643715G>C , CM000685.1:g.138643715G>C	GRCh37
NC_000023.9:g.138471381G>C	NCBI36
NG_007994.1:g.35821G>C , LRG_556:g.35821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.871G>C MANE Select	ENSP00000218099.2:p.Glu291Gln
ENST00000643157.1:n.1538G>C
ENST00000218099.6:c.871G>C	ENSP00000218099.2:p.Glu291Gln
ENST00000394090.2:c.757G>C	ENSP00000377650.2:p.Glu253Gln
NM_000133.3:c.871G>C , LRG_556t1:c.871G>C	NP_000124.1:p.Glu291Gln
NM_001313913.1:c.757G>C	NP_001300842.1:p.Glu253Gln
XM_005262397.3:c.742G>C	XP_005262454.1:p.Glu248Gln
XM_005262397.4:c.742G>C	XP_005262454.1:p.Glu248Gln
NM_000133.4:c.871G>C MANE Select	NP_000124.1:p.Glu291Gln
NM_001313913.2:c.757G>C	NP_001300842.1:p.Glu253Gln