Canonical Allele Identifier: CA414446185

Gene: F9

Linked Data

• ClinVar Variation Id: 573753
• ClinVar RCV Id: RCV003117493
• dbSNP Id: rs1387119011
• MyVariant Identifiers: chrX:g.138643992T>C (hg19) ; chrX:g.139561833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561833T>C , CM000685.2:g.139561833T>C	GRCh38
NC_000023.10:g.138643992T>C , CM000685.1:g.138643992T>C	GRCh37
NC_000023.9:g.138471658T>C	NCBI36
NG_007994.1:g.36098T>C , LRG_556:g.36098T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1148T>C MANE Select	ENSP00000218099.2:p.Leu383Pro
ENST00000643157.1:n.1723+92T>C
ENST00000218099.6:c.1148T>C	ENSP00000218099.2:p.Leu383Pro
ENST00000394090.2:c.1034T>C	ENSP00000377650.2:p.Leu345Pro
NM_000133.3:c.1148T>C , LRG_556t1:c.1148T>C	NP_000124.1:p.Leu383Pro
NM_001313913.1:c.1034T>C	NP_001300842.1:p.Leu345Pro
XM_005262397.3:c.1019T>C	XP_005262454.1:p.Leu340Pro
XM_005262397.4:c.1019T>C	XP_005262454.1:p.Leu340Pro
NM_000133.4:c.1148T>C MANE Select	NP_000124.1:p.Leu383Pro
NM_001313913.2:c.1034T>C	NP_001300842.1:p.Leu345Pro