Canonical Allele Identifier: CA442641188

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 1598020
• ClinVar RCV Id: RCV002120165
• dbSNP Id: rs1484800739
• gnomAD v3: 4-186287811-G-A
• gnomAD v4: 4-186287811-G-A
• MyVariant Identifiers: chr4:g.187208965G>A (hg19) ; chr4:g.186287811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186287811G>A , CM000666.2:g.186287811G>A	GRCh38
NC_000004.11:g.187208965G>A , CM000666.1:g.187208965G>A	GRCh37
NC_000004.10:g.187445959G>A	NCBI36
NG_008051.1:g.26848G>A , LRG_583:g.26848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1704G>A (F11) MANE Select	ENSP00000384957.2:p.Lys568=
ENST00000264691.4:c.304G>A (F11)
ENST00000264692.8:c.1542G>A (F11)	ENSP00000264692.5:p.Lys514=
ENST00000403665.6:c.1704G>A (F11)	ENSP00000384957.2:p.Lys568=
ENST00000503841.1:n.223G>A (F11)
NM_000128.3:c.1704G>A , LRG_583t1:c.1704G>A (F11)	NP_000119.1:p.Lys568=
NR_033900.1:n.1066+617C>T (F11-AS1)
XM_005262821.2:c.1707G>A (F11)	XP_005262878.1:p.Lys569=
XM_005262822.2:c.1611G>A (F11)	XP_005262879.1:p.Lys537=
XM_005262823.2:c.1437G>A (F11)	XP_005262880.1:p.Lys479=
XM_006714137.1:c.1659G>A (F11)	XP_006714200.1:p.Lys553=
XM_005262821.4:c.1707G>A (F11)	XP_005262878.1:p.Lys569=
XM_005262822.4:c.1611G>A (F11)	XP_005262879.1:p.Lys537=
XM_005262823.4:c.1437G>A (F11)	XP_005262880.1:p.Lys479=
XM_006714137.3:c.1659G>A (F11)	XP_006714200.1:p.Lys553=
NM_000128.4:c.1704G>A (F11) MANE Select	NP_000119.1:p.Lys568=