Canonical Allele Identifier: CA358943731
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 551595
ClinVar RCV Id: RCV000666697
dbSNP Id: rs1554083754

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285811C>T , CM000666.2:g.186285811C>T GRCh38
NC_000004.11:g.187206965C>T , CM000666.1:g.187206965C>T GRCh37
NC_000004.10:g.187443959C>T NCBI36
NG_008051.1:g.24848C>T , LRG_583:g.24848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1478C>T MANE Select ENSP00000384957.2:p.Thr493Ile
ENST00000264691.4:c.174C>T
ENST00000264692.8:c.1316C>T ENSP00000264692.5:p.Thr439Ile
ENST00000403665.6:c.1478C>T ENSP00000384957.2:p.Thr493Ile
NM_000128.3:c.1478C>T , LRG_583t1:c.1478C>T NP_000119.1:p.Thr493Ile
XM_005262821.2:c.1481C>T XP_005262878.1:p.Thr494Ile
XM_005262822.2:c.1481C>T XP_005262879.1:p.Thr494Ile
XM_005262823.2:c.1211C>T XP_005262880.1:p.Thr404Ile
XM_005262824.1:c.1481C>T XP_005262881.1:p.Thr494Ile
XM_006714137.1:c.1433C>T XP_006714200.1:p.Thr478Ile
XR_938706.1:n.1886C>T
XR_938707.1:n.1886C>T
XM_005262821.4:c.1481C>T XP_005262878.1:p.Thr494Ile
XM_005262822.4:c.1481C>T XP_005262879.1:p.Thr494Ile
XM_005262823.4:c.1211C>T XP_005262880.1:p.Thr404Ile
XM_006714137.3:c.1433C>T XP_006714200.1:p.Thr478Ile
XR_001741172.2:n.1952C>T
NM_000128.4:c.1478C>T MANE Select NP_000119.1:p.Thr493Ile