Canonical Allele Identifier: CA219106
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 68175
ClinVar RCV Id: RCV000059007
dbSNP Id: rs281875241

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285694T>A , CM000666.2:g.186285694T>A GRCh38
NC_000004.11:g.187206848T>A , CM000666.1:g.187206848T>A GRCh37
NC_000004.10:g.187443842T>A NCBI36
NG_008051.1:g.24731T>A , LRG_583:g.24731T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1361T>A MANE Select ENSP00000384957.2:p.Ile454Lys
ENST00000264691.4:c.57T>A
ENST00000264692.8:c.1199T>A ENSP00000264692.5:p.Ile400Lys
ENST00000403665.6:c.1361T>A ENSP00000384957.2:p.Ile454Lys
NM_000128.3:c.1361T>A , LRG_583t1:c.1361T>A NP_000119.1:p.Ile454Lys
XM_005262821.2:c.1364T>A XP_005262878.1:p.Ile455Lys
XM_005262822.2:c.1364T>A XP_005262879.1:p.Ile455Lys
XM_005262823.2:c.1094T>A XP_005262880.1:p.Ile365Lys
XM_005262824.1:c.1364T>A XP_005262881.1:p.Ile455Lys
XM_006714137.1:c.1316T>A XP_006714200.1:p.Ile439Lys
XR_938706.1:n.1769T>A
XR_938707.1:n.1769T>A
XM_005262821.4:c.1364T>A XP_005262878.1:p.Ile455Lys
XM_005262822.4:c.1364T>A XP_005262879.1:p.Ile455Lys
XM_005262823.4:c.1094T>A XP_005262880.1:p.Ile365Lys
XM_006714137.3:c.1316T>A XP_006714200.1:p.Ile439Lys
XR_001741172.2:n.1835T>A
NM_000128.4:c.1361T>A MANE Select NP_000119.1:p.Ile454Lys