Canonical Allele Identifier: CA442641129

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 1660867
• ClinVar RCV Id: RCV002176274
• dbSNP Id: rs2126787883
• gnomAD v4: 4-186287739-G-A
• MyVariant Identifiers: chr4:g.187208893G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186287739G>A , CM000666.2:g.186287739G>A	GRCh38
NC_000004.11:g.187208893G>A , CM000666.1:g.187208893G>A	GRCh37
NC_000004.10:g.187445887G>A	NCBI36
NG_008051.1:g.26776G>A , LRG_583:g.26776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1632G>A (F11) MANE Select	ENSP00000384957.2:p.Glu544=
ENST00000264691.4:c.232G>A (F11)
ENST00000264692.8:c.1470G>A (F11)	ENSP00000264692.5:p.Glu490=
ENST00000403665.6:c.1632G>A (F11)	ENSP00000384957.2:p.Glu544=
ENST00000503841.1:n.151G>A (F11)
NM_000128.3:c.1632G>A , LRG_583t1:c.1632G>A (F11)	NP_000119.1:p.Glu544=
NR_033900.1:n.1066+689C>T (F11-AS1)
XM_005262821.2:c.1635G>A (F11)	XP_005262878.1:p.Glu545=
XM_005262822.2:c.1539G>A (F11)	XP_005262879.1:p.Glu513=
XM_005262823.2:c.1365G>A (F11)	XP_005262880.1:p.Glu455=
XM_006714137.1:c.1587G>A (F11)	XP_006714200.1:p.Glu529=
XR_938707.1:n.1944G>A (F11)
XM_005262821.4:c.1635G>A (F11)	XP_005262878.1:p.Glu545=
XM_005262822.4:c.1539G>A (F11)	XP_005262879.1:p.Glu513=
XM_005262823.4:c.1365G>A (F11)	XP_005262880.1:p.Glu455=
XM_006714137.3:c.1587G>A (F11)	XP_006714200.1:p.Glu529=
NM_000128.4:c.1632G>A (F11) MANE Select	NP_000119.1:p.Glu544=