Canonical Allele Identifier: CA358937076
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1703827
ClinVar RCV Id: RCV002280986

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280047T>G , CM000666.2:g.186280047T>G GRCh38
NC_000004.11:g.187201201T>G , CM000666.1:g.187201201T>G GRCh37
NC_000004.10:g.187438195T>G NCBI36
NG_008051.1:g.19084T>G , LRG_583:g.19084T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.791T>G MANE Select ENSP00000384957.2:p.Leu264Trp
ENST00000264692.8:c.629T>G ENSP00000264692.5:p.Leu210Trp
ENST00000403665.6:c.791T>G ENSP00000384957.2:p.Leu264Trp
ENST00000452239.1:c.238T>G
NM_000128.3:c.791T>G , LRG_583t1:c.791T>G NP_000119.1:p.Leu264Trp
XM_005262821.2:c.791T>G XP_005262878.1:p.Leu264Trp
XM_005262822.2:c.791T>G XP_005262879.1:p.Leu264Trp
XM_005262823.2:c.521T>G XP_005262880.1:p.Leu174Trp
XM_005262824.1:c.791T>G XP_005262881.1:p.Leu264Trp
XM_006714137.1:c.791T>G XP_006714200.1:p.Leu264Trp
XR_938706.1:n.1143T>G
XR_938707.1:n.1143T>G
XM_005262821.4:c.791T>G XP_005262878.1:p.Leu264Trp
XM_005262822.4:c.791T>G XP_005262879.1:p.Leu264Trp
XM_005262823.4:c.521T>G XP_005262880.1:p.Leu174Trp
XM_006714137.3:c.791T>G XP_006714200.1:p.Leu264Trp
XM_017007884.2:c.791T>G XP_016863373.1:p.Leu264Trp
XM_017007885.2:c.791T>G XP_016863374.1:p.Leu264Trp
XM_017007886.2:c.791T>G XP_016863375.1:p.Leu264Trp
XR_001741172.2:n.1124T>G
NM_000128.4:c.791T>G MANE Select NP_000119.1:p.Leu264Trp