Canonical Allele Identifier: CA358945569

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 2582715
• ClinVar RCV Id: RCV003333831
• dbSNP Id: rs1267979731
• gnomAD v2: 4-187208895-G-A
• gnomAD v4: 4-186287741-G-A
• MyVariant Identifiers: chr4:g.187208895G>A (hg19) ; chr4:g.186287741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186287741G>A , CM000666.2:g.186287741G>A	GRCh38
NC_000004.11:g.187208895G>A , CM000666.1:g.187208895G>A	GRCh37
NC_000004.10:g.187445889G>A	NCBI36
NG_008051.1:g.26778G>A , LRG_583:g.26778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1634G>A (F11) MANE Select	ENSP00000384957.2:p.Cys545Tyr
ENST00000264691.4:c.234G>A (F11)
ENST00000264692.8:c.1472G>A (F11)	ENSP00000264692.5:p.Cys491Tyr
ENST00000403665.6:c.1634G>A (F11)	ENSP00000384957.2:p.Cys545Tyr
ENST00000503841.1:n.153G>A (F11)
NM_000128.3:c.1634G>A , LRG_583t1:c.1634G>A (F11)	NP_000119.1:p.Cys545Tyr
NR_033900.1:n.1066+687C>T (F11-AS1)
XM_005262821.2:c.1637G>A (F11)	XP_005262878.1:p.Cys546Tyr
XM_005262822.2:c.1541G>A (F11)	XP_005262879.1:p.Cys514Tyr
XM_005262823.2:c.1367G>A (F11)	XP_005262880.1:p.Cys456Tyr
XM_006714137.1:c.1589G>A (F11)	XP_006714200.1:p.Cys530Tyr
XR_938707.1:n.1946G>A (F11)
XM_005262821.4:c.1637G>A (F11)	XP_005262878.1:p.Cys546Tyr
XM_005262822.4:c.1541G>A (F11)	XP_005262879.1:p.Cys514Tyr
XM_005262823.4:c.1367G>A (F11)	XP_005262880.1:p.Cys456Tyr
XM_006714137.3:c.1589G>A (F11)	XP_006714200.1:p.Cys530Tyr
NM_000128.4:c.1634G>A (F11) MANE Select	NP_000119.1:p.Cys545Tyr