Canonical Allele Identifier: CA358944351

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286501A>G , CM000666.2:g.186286501A>G GRCh38
NC_000004.11:g.187207655A>G , CM000666.1:g.187207655A>G GRCh37
NC_000004.10:g.187444649A>G NCBI36
NG_008051.1:g.25538A>G , LRG_583:g.25538A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1567A>G (F11) MANE Select ENSP00000384957.2:p.Lys523Glu
ENST00000264691.4:c.176+688A>G (F11)
ENST00000264692.8:c.1405A>G (F11) ENSP00000264692.5:p.Lys469Glu
ENST00000403665.6:c.1567A>G (F11) ENSP00000384957.2:p.Lys523Glu
NM_000128.3:c.1567A>G , LRG_583t1:c.1567A>G (F11) NP_000119.1:p.Lys523Glu
NR_033900.1:n.1067-235T>C (F11-AS1)
XM_005262821.2:c.1570A>G (F11) XP_005262878.1:p.Lys524Glu
XM_005262822.2:c.1483+688A>G (F11) XP_005262879.1:n.1483+688A>G
XM_005262823.2:c.1300A>G (F11) XP_005262880.1:p.Lys434Glu
XM_005262824.1:c.1484-45A>G (F11) XP_005262881.1:n.1484-45A>G
XM_006714137.1:c.1522A>G (F11) XP_006714200.1:p.Lys508Glu
XR_938706.1:n.1975A>G (F11)
XR_938707.1:n.1888+688A>G (F11)
XM_005262821.4:c.1570A>G (F11) XP_005262878.1:p.Lys524Glu
XM_005262822.4:c.1483+688A>G (F11) XP_005262879.1:n.1483+688A>G
XM_005262823.4:c.1300A>G (F11) XP_005262880.1:p.Lys434Glu
XM_006714137.3:c.1522A>G (F11) XP_006714200.1:p.Lys508Glu
NM_000128.4:c.1567A>G (F11) MANE Select NP_000119.1:p.Lys523Glu