Canonical Allele Identifier: CA358946101

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288522G>C , CM000666.2:g.186288522G>C GRCh38
NC_000004.11:g.187209676G>C , CM000666.1:g.187209676G>C GRCh37
NC_000004.10:g.187446670G>C NCBI36
NG_008051.1:g.27559G>C , LRG_583:g.27559G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1786G>C (F11) MANE Select ENSP00000384957.2:p.Gly596Arg
ENST00000264691.4:c.386G>C (F11)
ENST00000264692.8:c.1624G>C (F11) ENSP00000264692.5:p.Gly542Arg
ENST00000403665.6:c.1786G>C (F11) ENSP00000384957.2:p.Gly596Arg
ENST00000503841.1:n.305G>C (F11)
NM_000128.3:c.1786G>C , LRG_583t1:c.1786G>C (F11) NP_000119.1:p.Gly596Arg
NR_033900.1:n.972C>G (F11-AS1)
XM_005262821.2:c.1789G>C (F11) XP_005262878.1:p.Gly597Arg
XM_005262822.2:c.1693G>C (F11) XP_005262879.1:p.Gly565Arg
XM_005262823.2:c.1519G>C (F11) XP_005262880.1:p.Gly507Arg
XM_006714137.1:c.1741G>C (F11) XP_006714200.1:p.Gly581Arg
XM_005262821.4:c.1789G>C (F11) XP_005262878.1:p.Gly597Arg
XM_005262822.4:c.1693G>C (F11) XP_005262879.1:p.Gly565Arg
XM_005262823.4:c.1519G>C (F11) XP_005262880.1:p.Gly507Arg
XM_006714137.3:c.1741G>C (F11) XP_006714200.1:p.Gly581Arg
NM_000128.4:c.1786G>C (F11) MANE Select NP_000119.1:p.Gly596Arg