Canonical Allele Identifier: CA358944345

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286500A>C , CM000666.2:g.186286500A>C GRCh38
NC_000004.11:g.187207654A>C , CM000666.1:g.187207654A>C GRCh37
NC_000004.10:g.187444648A>C NCBI36
NG_008051.1:g.25537A>C , LRG_583:g.25537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1566A>C (F11) MANE Select ENSP00000384957.2:p.Arg522Ser
ENST00000264691.4:c.176+687A>C (F11)
ENST00000264692.8:c.1404A>C (F11) ENSP00000264692.5:p.Arg468Ser
ENST00000403665.6:c.1566A>C (F11) ENSP00000384957.2:p.Arg522Ser
NM_000128.3:c.1566A>C , LRG_583t1:c.1566A>C (F11) NP_000119.1:p.Arg522Ser
NR_033900.1:n.1067-234T>G (F11-AS1)
XM_005262821.2:c.1569A>C (F11) XP_005262878.1:p.Arg523Ser
XM_005262822.2:c.1483+687A>C (F11) XP_005262879.1:n.1483+687A>C
XM_005262823.2:c.1299A>C (F11) XP_005262880.1:p.Arg433Ser
XM_005262824.1:c.1484-46A>C (F11) XP_005262881.1:n.1484-46A>C
XM_006714137.1:c.1521A>C (F11) XP_006714200.1:p.Arg507Ser
XR_938706.1:n.1974A>C (F11)
XR_938707.1:n.1888+687A>C (F11)
XM_005262821.4:c.1569A>C (F11) XP_005262878.1:p.Arg523Ser
XM_005262822.4:c.1483+687A>C (F11) XP_005262879.1:n.1483+687A>C
XM_005262823.4:c.1299A>C (F11) XP_005262880.1:p.Arg433Ser
XM_006714137.3:c.1521A>C (F11) XP_006714200.1:p.Arg507Ser
NM_000128.4:c.1566A>C (F11) MANE Select NP_000119.1:p.Arg522Ser