Canonical Allele Identifier: CA199116
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 189094
dbSNP Id: rs747702749

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186276365C>T , CM000666.2:g.186276365C>T GRCh38
NC_000004.11:g.187197519C>T , CM000666.1:g.187197519C>T GRCh37
NC_000004.10:g.187434513C>T NCBI36
NG_008051.1:g.15402C>T , LRG_583:g.15402C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.730C>T MANE Select ENSP00000384957.2:p.Gln244Ter
ENST00000264692.8:c.568C>T ENSP00000264692.5:p.Gln190Ter
ENST00000403665.6:c.730C>T ENSP00000384957.2:p.Gln244Ter
ENST00000452239.1:c.177C>T
NM_000128.3:c.730C>T , LRG_583t1:c.730C>T NP_000119.1:p.Gln244Ter
XM_005262821.2:c.730C>T XP_005262878.1:p.Gln244Ter
XM_005262822.2:c.730C>T XP_005262879.1:p.Gln244Ter
XM_005262823.2:c.485+2090C>T XP_005262880.1:n.485+2090C>T
XM_005262824.1:c.730C>T XP_005262881.1:p.Gln244Ter
XM_006714137.1:c.730C>T XP_006714200.1:p.Gln244Ter
XR_938706.1:n.1082C>T
XR_938707.1:n.1082C>T
XM_005262821.4:c.730C>T XP_005262878.1:p.Gln244Ter
XM_005262822.4:c.730C>T XP_005262879.1:p.Gln244Ter
XM_005262823.4:c.485+2090C>T XP_005262880.1:n.485+2090C>T
XM_006714137.3:c.730C>T XP_006714200.1:p.Gln244Ter
XM_017007884.2:c.730C>T XP_016863373.1:p.Gln244Ter
XM_017007885.2:c.730C>T XP_016863374.1:p.Gln244Ter
XM_017007886.2:c.730C>T XP_016863375.1:p.Gln244Ter
XR_001741172.2:n.1063C>T
NM_000128.4:c.730C>T MANE Select NP_000119.1:p.Gln244Ter