Canonical Allele Identifier: CA358945837

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 553288
• ClinVar RCV Id: RCV000668701
• dbSNP Id: rs281875250
• gnomAD v2: 4-187209614-C-A
• gnomAD v4: 4-186288460-C-A
• MyVariant Identifiers: chr4:g.187209614C>A (hg19) ; chr4:g.186288460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186288460C>A , CM000666.2:g.186288460C>A	GRCh38
NC_000004.11:g.187209614C>A , CM000666.1:g.187209614C>A	GRCh37
NC_000004.10:g.187446608C>A	NCBI36
NG_008051.1:g.27497C>A , LRG_583:g.27497C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1724C>A (F11) MANE Select	ENSP00000384957.2:p.Ser575Ter
ENST00000264691.4:c.324C>A (F11)
ENST00000264692.8:c.1562C>A (F11)	ENSP00000264692.5:p.Ser521Ter
ENST00000403665.6:c.1724C>A (F11)	ENSP00000384957.2:p.Ser575Ter
ENST00000503841.1:n.243C>A (F11)
NM_000128.3:c.1724C>A , LRG_583t1:c.1724C>A (F11)	NP_000119.1:p.Ser575Ter
NR_033900.1:n.1034G>T (F11-AS1)
XM_005262821.2:c.1727C>A (F11)	XP_005262878.1:p.Ser576Ter
XM_005262822.2:c.1631C>A (F11)	XP_005262879.1:p.Ser544Ter
XM_005262823.2:c.1457C>A (F11)	XP_005262880.1:p.Ser486Ter
XM_006714137.1:c.1679C>A (F11)	XP_006714200.1:p.Ser560Ter
XM_005262821.4:c.1727C>A (F11)	XP_005262878.1:p.Ser576Ter
XM_005262822.4:c.1631C>A (F11)	XP_005262879.1:p.Ser544Ter
XM_005262823.4:c.1457C>A (F11)	XP_005262880.1:p.Ser486Ter
XM_006714137.3:c.1679C>A (F11)	XP_006714200.1:p.Ser560Ter
NM_000128.4:c.1724C>A (F11) MANE Select	NP_000119.1:p.Ser575Ter