Canonical Allele Identifier: CA414443714

Gene: F9

Linked Data

• ClinVar Variation Id: 1477908
• ClinVar RCV Id: RCV001973941
• dbSNP Id: rs137852247
• MyVariant Identifiers: chrX:g.138643011G>C (hg19) ; chrX:g.139560852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139560852G>C , CM000685.2:g.139560852G>C	GRCh38
NC_000023.10:g.138643011G>C , CM000685.1:g.138643011G>C	GRCh37
NC_000023.9:g.138470677G>C	NCBI36
NG_007994.1:g.35117G>C , LRG_556:g.35117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.835G>C MANE Select	ENSP00000218099.2:p.Ala279Pro
ENST00000643157.1:n.1502G>C
ENST00000218099.6:c.835G>C	ENSP00000218099.2:p.Ala279Pro
ENST00000394090.2:c.721G>C	ENSP00000377650.2:p.Ala241Pro
NM_000133.3:c.835G>C , LRG_556t1:c.835G>C	NP_000124.1:p.Ala279Pro
NM_001313913.1:c.721G>C	NP_001300842.1:p.Ala241Pro
XM_005262397.3:c.706G>C	XP_005262454.1:p.Ala236Pro
XM_005262397.4:c.706G>C	XP_005262454.1:p.Ala236Pro
NM_000133.4:c.835G>C MANE Select	NP_000124.1:p.Ala279Pro
NM_001313913.2:c.721G>C	NP_001300842.1:p.Ala241Pro