Canonical Allele Identifier: CA414445922

Gene: F9

Linked Data

• ClinVar Variation Id: 626973
• ClinVar RCV Id: RCV000851659 ; RCV001378168
• dbSNP Id: rs1603267393
• MyVariant Identifiers: chrX:g.138643950T>C (hg19) ; chrX:g.139561791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561791T>C , CM000685.2:g.139561791T>C	GRCh38
NC_000023.10:g.138643950T>C , CM000685.1:g.138643950T>C	GRCh37
NC_000023.9:g.138471616T>C	NCBI36
NG_007994.1:g.36056T>C , LRG_556:g.36056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1106T>C MANE Select	ENSP00000218099.2:p.Leu369Pro
ENST00000643157.1:n.1723+50T>C
ENST00000218099.6:c.1106T>C	ENSP00000218099.2:p.Leu369Pro
ENST00000394090.2:c.992T>C	ENSP00000377650.2:p.Leu331Pro
NM_000133.3:c.1106T>C , LRG_556t1:c.1106T>C	NP_000124.1:p.Leu369Pro
NM_001313913.1:c.992T>C	NP_001300842.1:p.Leu331Pro
XM_005262397.3:c.977T>C	XP_005262454.1:p.Leu326Pro
XM_005262397.4:c.977T>C	XP_005262454.1:p.Leu326Pro
NM_000133.4:c.1106T>C MANE Select	NP_000124.1:p.Leu369Pro
NM_001313913.2:c.992T>C	NP_001300842.1:p.Leu331Pro