Canonical Allele Identifier: CA358943902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286421A>G , CM000666.2:g.186286421A>G GRCh38
NC_000004.11:g.187207575A>G , CM000666.1:g.187207575A>G GRCh37
NC_000004.10:g.187444569A>G NCBI36
NG_008051.1:g.25458A>G , LRG_583:g.25458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1487A>G (F11) MANE Select ENSP00000384957.2:p.Gln496Arg
ENST00000264691.4:c.176+608A>G (F11)
ENST00000264692.8:c.1325A>G (F11) ENSP00000264692.5:p.Gln442Arg
ENST00000403665.6:c.1487A>G (F11) ENSP00000384957.2:p.Gln496Arg
NM_000128.3:c.1487A>G , LRG_583t1:c.1487A>G (F11) NP_000119.1:p.Gln496Arg
NR_033900.1:n.1067-155T>C (F11-AS1)
XM_005262821.2:c.1490A>G (F11) XP_005262878.1:p.Gln497Arg
XM_005262822.2:c.1483+608A>G (F11) XP_005262879.1:n.1483+608A>G
XM_005262823.2:c.1220A>G (F11) XP_005262880.1:p.Gln407Arg
XM_005262824.1:c.1484-125A>G (F11) XP_005262881.1:n.1484-125A>G
XM_006714137.1:c.1442A>G (F11) XP_006714200.1:p.Gln481Arg
XR_938706.1:n.1895A>G (F11)
XR_938707.1:n.1888+608A>G (F11)
XM_005262821.4:c.1490A>G (F11) XP_005262878.1:p.Gln497Arg
XM_005262822.4:c.1483+608A>G (F11) XP_005262879.1:n.1483+608A>G
XM_005262823.4:c.1220A>G (F11) XP_005262880.1:p.Gln407Arg
XM_006714137.3:c.1442A>G (F11) XP_006714200.1:p.Gln481Arg
XR_001741172.2:n.1961A>G (F11)
NM_000128.4:c.1487A>G (F11) MANE Select NP_000119.1:p.Gln496Arg