Canonical Allele Identifier: CA414447161

Gene: F9

Linked Data

• ClinVar Variation Id: 837906
• ClinVar RCV Id: RCV001039346
• dbSNP Id: rs1928130497
• MyVariant Identifiers: chrX:g.138644139G>C (hg19) ; chrX:g.139561980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561980G>C , CM000685.2:g.139561980G>C	GRCh38
NC_000023.10:g.138644139G>C , CM000685.1:g.138644139G>C	GRCh37
NC_000023.9:g.138471805G>C	NCBI36
NG_007994.1:g.36245G>C , LRG_556:g.36245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1295G>C MANE Select	ENSP00000218099.2:p.Gly432Ala
ENST00000643157.1:n.1723+239G>C
ENST00000218099.6:c.1295G>C	ENSP00000218099.2:p.Gly432Ala
ENST00000394090.2:c.1181G>C	ENSP00000377650.2:p.Gly394Ala
NM_000133.3:c.1295G>C , LRG_556t1:c.1295G>C	NP_000124.1:p.Gly432Ala
NM_001313913.1:c.1181G>C	NP_001300842.1:p.Gly394Ala
XM_005262397.3:c.1166G>C	XP_005262454.1:p.Gly389Ala
XM_005262397.4:c.1166G>C	XP_005262454.1:p.Gly389Ala
NM_000133.4:c.1295G>C MANE Select	NP_000124.1:p.Gly432Ala
NM_001313913.2:c.1181G>C	NP_001300842.1:p.Gly394Ala