Canonical Allele Identifier: CA121748

Gene: F11

Linked Data

• ClinVar Variation Id: 11892
• ClinVar RCV Id: RCV000012667 ; RCV000727626 ; RCV001273722 ; RCV001258090 ; RCV003407319
• dbSNP Id: rs121965064
• ExAC: 4:187201412 T / C
• gnomAD v2: 4-187201412-T-C
• gnomAD v3: 4-186280258-T-C
• gnomAD v4: 4-186280258-T-C
• MyVariant Identifiers: chr4:g.187201412T>C (hg19) ; chr4:g.186280258T>C (hg38)
• PubMed: PMID:1547342 ; PMID:2052060 ; PMID:2813350 ; PMID:15026311 ; PMID:16835901 ; PMID:19652879 ; PMID:25158988 ; PMID:26558335

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280258T>C , CM000666.2:g.186280258T>C	GRCh38
NC_000004.11:g.187201412T>C , CM000666.1:g.187201412T>C	GRCh37
NC_000004.10:g.187438406T>C	NCBI36
NG_008051.1:g.19295T>C , LRG_583:g.19295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.901T>C MANE Select	ENSP00000384957.2:p.Phe301Leu
ENST00000264692.8:c.739T>C	ENSP00000264692.5:p.Phe247Leu
ENST00000403665.6:c.901T>C	ENSP00000384957.2:p.Phe301Leu
ENST00000452239.1:c.348T>C
NM_000128.3:c.901T>C , LRG_583t1:c.901T>C	NP_000119.1:p.Phe301Leu
XM_005262821.2:c.901T>C	XP_005262878.1:p.Phe301Leu
XM_005262822.2:c.901T>C	XP_005262879.1:p.Phe301Leu
XM_005262823.2:c.631T>C	XP_005262880.1:p.Phe211Leu
XM_005262824.1:c.901T>C	XP_005262881.1:p.Phe301Leu
XM_006714137.1:c.866-13T>C	XP_006714200.1:n.866-13T>C
XR_938706.1:n.1253T>C
XR_938707.1:n.1253T>C
XM_005262821.4:c.901T>C	XP_005262878.1:p.Phe301Leu
XM_005262822.4:c.901T>C	XP_005262879.1:p.Phe301Leu
XM_005262823.4:c.631T>C	XP_005262880.1:p.Phe211Leu
XM_006714137.3:c.866-13T>C	XP_006714200.1:n.866-13T>C
XM_017007884.2:c.901T>C	XP_016863373.1:p.Phe301Leu
XM_017007885.2:c.901T>C	XP_016863374.1:p.Phe301Leu
XM_017007886.2:c.901T>C	XP_016863375.1:p.Phe301Leu
XR_001741172.2:n.1234T>C
NM_000128.4:c.901T>C MANE Select	NP_000119.1:p.Phe301Leu