Canonical Allele Identifier: CA414443111

Gene: F9

Linked Data

• ClinVar Variation Id: 627124
• ClinVar RCV Id: RCV000851863
• dbSNP Id: rs1603267173
• MyVariant Identifiers: chrX:g.138642916A>C (hg19) ; chrX:g.139560757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139560757A>C , CM000685.2:g.139560757A>C	GRCh38
NC_000023.10:g.138642916A>C , CM000685.1:g.138642916A>C	GRCh37
NC_000023.9:g.138470582A>C	NCBI36
NG_007994.1:g.35022A>C , LRG_556:g.35022A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.740A>C MANE Select	ENSP00000218099.2:p.Lys247Thr
ENST00000643157.1:n.1407A>C
ENST00000218099.6:c.740A>C	ENSP00000218099.2:p.Lys247Thr
ENST00000394090.2:c.626A>C	ENSP00000377650.2:p.Lys209Thr
NM_000133.3:c.740A>C , LRG_556t1:c.740A>C	NP_000124.1:p.Lys247Thr
NM_001313913.1:c.626A>C	NP_001300842.1:p.Lys209Thr
XM_005262397.3:c.611A>C	XP_005262454.1:p.Lys204Thr
XM_005262397.4:c.611A>C	XP_005262454.1:p.Lys204Thr
NM_000133.4:c.740A>C MANE Select	NP_000124.1:p.Lys247Thr
NM_001313913.2:c.626A>C	NP_001300842.1:p.Lys209Thr