Canonical Allele Identifier: CA358941655

Gene: F11

Linked Data

• ClinVar Variation Id: 555640
• ClinVar RCV Id: RCV000671498
• dbSNP Id: rs1554083456
• COSMIC: COSM3602621 ; COSM3602622
• MyVariant Identifiers: chr4:g.187205281G>A (hg19) ; chr4:g.186284127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284127G>A , CM000666.2:g.186284127G>A	GRCh38
NC_000004.11:g.187205281G>A , CM000666.1:g.187205281G>A	GRCh37
NC_000004.10:g.187442275G>A	NCBI36
NG_008051.1:g.23164G>A , LRG_583:g.23164G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1171G>A MANE Select	ENSP00000384957.2:p.Gly391Arg
ENST00000264692.8:c.1009G>A	ENSP00000264692.5:p.Gly337Arg
ENST00000403665.6:c.1171G>A	ENSP00000384957.2:p.Gly391Arg
NM_000128.3:c.1171G>A , LRG_583t1:c.1171G>A	NP_000119.1:p.Gly391Arg
XM_005262821.2:c.1174G>A	XP_005262878.1:p.Gly392Arg
XM_005262822.2:c.1174G>A	XP_005262879.1:p.Gly392Arg
XM_005262823.2:c.904G>A	XP_005262880.1:p.Gly302Arg
XM_005262824.1:c.1174G>A	XP_005262881.1:p.Gly392Arg
XM_006714137.1:c.1126G>A	XP_006714200.1:p.Gly376Arg
XR_938706.1:n.1579G>A
XR_938707.1:n.1579G>A
XM_005262821.4:c.1174G>A	XP_005262878.1:p.Gly392Arg
XM_005262822.4:c.1174G>A	XP_005262879.1:p.Gly392Arg
XM_005262823.4:c.904G>A	XP_005262880.1:p.Gly302Arg
XM_006714137.3:c.1126G>A	XP_006714200.1:p.Gly376Arg
XM_017007884.2:c.*2143G>A	XP_016863373.1:n.*2143G>A
XM_017007885.2:c.*39G>A	XP_016863374.1:n.*39G>A
XR_001741172.2:n.1645G>A
NM_000128.4:c.1171G>A MANE Select	NP_000119.1:p.Gly391Arg