Canonical Allele Identifier: CA199052

Gene: F11

Linked Data

• ClinVar Variation Id: 188760
• ClinVar RCV Id: RCV000169077
• dbSNP Id: rs771896253
• ExAC: 4:187205296 C / T
• gnomAD v2: 4-187205296-C-T
• gnomAD v3: 4-186284142-C-T
• gnomAD v4: 4-186284142-C-T
• COSMIC: COSM3428398 ; COSM3428399
• MyVariant Identifiers: chr4:g.187205296C>T (hg19) ; chr4:g.186284142C>T (hg38)
• PubMed: PMID:16835901 ; PMID:17549289 ; PMID:19652879 ; PMID:21192253

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284142C>T , CM000666.2:g.186284142C>T	GRCh38
NC_000004.11:g.187205296C>T , CM000666.1:g.187205296C>T	GRCh37
NC_000004.10:g.187442290C>T	NCBI36
NG_008051.1:g.23179C>T , LRG_583:g.23179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1186C>T MANE Select	ENSP00000384957.2:p.Arg396Cys
ENST00000264692.8:c.1024C>T	ENSP00000264692.5:p.Arg342Cys
ENST00000403665.6:c.1186C>T	ENSP00000384957.2:p.Arg396Cys
NM_000128.3:c.1186C>T , LRG_583t1:c.1186C>T	NP_000119.1:p.Arg396Cys
XM_005262821.2:c.1189C>T	XP_005262878.1:p.Arg397Cys
XM_005262822.2:c.1189C>T	XP_005262879.1:p.Arg397Cys
XM_005262823.2:c.919C>T	XP_005262880.1:p.Arg307Cys
XM_005262824.1:c.1189C>T	XP_005262881.1:p.Arg397Cys
XM_006714137.1:c.1141C>T	XP_006714200.1:p.Arg381Cys
XR_938706.1:n.1594C>T
XR_938707.1:n.1594C>T
XM_005262821.4:c.1189C>T	XP_005262878.1:p.Arg397Cys
XM_005262822.4:c.1189C>T	XP_005262879.1:p.Arg397Cys
XM_005262823.4:c.919C>T	XP_005262880.1:p.Arg307Cys
XM_006714137.3:c.1141C>T	XP_006714200.1:p.Arg381Cys
XM_017007884.2:c.*2158C>T	XP_016863373.1:n.*2158C>T
XM_017007885.2:c.*54C>T	XP_016863374.1:n.*54C>T
XR_001741172.2:n.1660C>T
NM_000128.4:c.1186C>T MANE Select	NP_000119.1:p.Arg396Cys