Canonical Allele Identifier: CA442641377

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 1088523
• ClinVar RCV Id: RCV001407052
• dbSNP Id: rs28934609
• gnomAD v4: 4-186288518-C-T
• MyVariant Identifiers: chr4:g.187209672C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186288518C>T , CM000666.2:g.186288518C>T	GRCh38
NC_000004.11:g.187209672C>T , CM000666.1:g.187209672C>T	GRCh37
NC_000004.10:g.187446666C>T	NCBI36
NG_008051.1:g.27555C>T , LRG_583:g.27555C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1782C>T (F11) MANE Select	ENSP00000384957.2:p.Ser594=
ENST00000264691.4:c.382C>T (F11)
ENST00000264692.8:c.1620C>T (F11)	ENSP00000264692.5:p.Ser540=
ENST00000403665.6:c.1782C>T (F11)	ENSP00000384957.2:p.Ser594=
ENST00000503841.1:n.301C>T (F11)
NM_000128.3:c.1782C>T , LRG_583t1:c.1782C>T (F11)	NP_000119.1:p.Ser594=
NR_033900.1:n.976G>A (F11-AS1)
XM_005262821.2:c.1785C>T (F11)	XP_005262878.1:p.Ser595=
XM_005262822.2:c.1689C>T (F11)	XP_005262879.1:p.Ser563=
XM_005262823.2:c.1515C>T (F11)	XP_005262880.1:p.Ser505=
XM_006714137.1:c.1737C>T (F11)	XP_006714200.1:p.Ser579=
XM_005262821.4:c.1785C>T (F11)	XP_005262878.1:p.Ser595=
XM_005262822.4:c.1689C>T (F11)	XP_005262879.1:p.Ser563=
XM_005262823.4:c.1515C>T (F11)	XP_005262880.1:p.Ser505=
XM_006714137.3:c.1737C>T (F11)	XP_006714200.1:p.Ser579=
NM_000128.4:c.1782C>T (F11) MANE Select	NP_000119.1:p.Ser594=